Dystonia
Dystonic Disorders
Dystonia Musculorum Deformans
Torticollis
Anti-Dyskinesia Agents
Meige Syndrome
Globus Pallidus
Muscle Cramp
Movement Disorders
Deep Brain Stimulation
Botulinum Toxins
Handwriting
Neuromuscular Agents
Hand
Molecular Chaperones
Botulinum Toxins, Type A
Nocturnal Paroxysmal Dystonia
Entopeduncular Nucleus
Levodopa
GTP Cyclohydrolase
Basal Ganglia Diseases
Basal Ganglia
Trihexyphenidyl
Chorea
Complex Regional Pain Syndromes
Dyskinesia, Drug-Induced
Electromyography
Essential Tremor
Spasm
Facial Muscles
Sensation Disorders
Age of Onset
Dyskinesias
Parkinsonian Disorders
DYT1 mutation in French families with idiopathic torsion dystonia. (1/432)
A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population. (+info)Human deafness dystonia syndrome is a mitochondrial disease. (2/432)
The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim12p mediate the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane and interact structurally and functionally with Tim8p and Tim13p. DDP is most similar to Tim8p. Tim8p exists as a soluble 70-kDa complex with Tim13p and Tim9p, and deletion of Tim8p is synthetically lethal with a conditional mutation in Tim10p. The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system. (+info)Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (3/432)
Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Although various large families with MD have been described, no positive linkage has been found to a chromosomal location. We report a family with eight members with MD. Linkage analysis identified a 23-centimorgan region on chromosome 11q23 that cosegregates with the disease state (maximum multipoint logarithm of odds score = 2.96 at D11S897). This region contains an excellent candidate gene for involvement in the etiology of MD, the D2 dopamine receptor (DRD2) gene. Neurotransmission mediated by DRD2 is known to have a key role in the control of movement and also has been implicated in reward and reinforcement mechanisms and psychiatric disorders. Sequencing of the coding region of DRD2 indicated that all affected and obligate carriers were heterozygous for a Val154Ile change in exon 3 of the protein, which is highly conserved across species. This change was found neither in other unaffected members of the pedigree nor in 250 control chromosomes. Our finding provides evidence for the involvement of DRD2 in a disorder of the central nervous system and should lead to further insight into the function of the dopaminergic system in dystonia and other movement and mood disorders. (+info)From off-period dystonia to peak-dose chorea. The clinical spectrum of varying subthalamic nucleus activity. (4/432)
The effect of chronic bilateral high-frequency stimulation of the subthalamic nucleus (STN) on levodopa-induced dyskinaesias was investigated in eight patients with fluctuating Parkinson's disease complicated by functionally disabling off-period dystonia. All of the patients also had severe diphasic and peak-dose chorea, so that it was possible to study the effect of high-frequency stimulation on the different types of levodopa-induced dyskinaesias. Off-period fixed dystonia was reduced by 90% and off-period pain by 66%. After acute levodopa challenge, high-frequency stimulation of the STN reduced diphasic mobile dystonia by 50% and peak-dose choreic dyskinaesias by 30%. The effect of bilateral high-frequency stimulation of the STN on the Unified Parkinson's Disease Rating Scale motor score had the same magnitude as the preoperative effect of levodopa. This allowed the levodopa dose to be reduced by 47%. The combination of reduced medication and continuous high-frequency stimulation of the STN reduced the duration of on-period diphasic and peak-dose dyskinaesias by 52% and the intensity by 68%. Acute high-frequency stimulation of the STN mimics an acute levodopa challenge, concerning both parkinsonism and dyskinaesias, and suppresses off-period dystonia. Increasing the voltage can induce repetitive dystonic dyskinaesias, mimicking diphasic levodopa-induced dyskinaesias. A further increase in voltage leads to a shift from a diphasic-pattern dystonia to a peak-dose pattern choreodystonia. Chronic high-frequency stimulation of the STN also mimics the benefit of levodopa on parkinsonism and improves all kinds of levodopa-induced dyskinaesias to varying degrees. Off-period dystonia, associated with neuronal hyperactivity in the STN is directly affected by stimulation and disappears immediately. The effect of chronic high-frequency stimulation of the STN on diphasic and peak-dose dyskinaesias is more complex and is related directly to the functional inhibition of the STN and indirectly to the replacement of the pulsatile dopaminergic stimulation by continuous functional inhibition of the STN. Chronic high-frequency stimulation of the STN allows a very gradual increase in stimulation parameters with increasing beneficial effect on parkinsonism while reducing the threshold for the elicitation of stimulation-induced dyskinaesias. In parallel with improvement of parkinsonism, the levodopa dose can be gradually decreased. As diphasic dystonic dyskinaesias are improved to a greater degree than peak-dose dyskinaesias, both direct and indirect mechanisms may be involved. Peak-dose choreatic dyskinaesias, associated with little evidence of parkinsonism and thus with low neuronal activity in the STN, are improved, mostly indirectly. Fixed off-period dystonia, mobile diphasic dystonia and peak-dose choreodystonia seem to represent a continuous clinical spectrum reflecting a continuous spectrum of underlying activity patterns of STN neurons. (+info)Generalised muscular weakness after botulinum toxin injections for dystonia: a report of three cases. (5/432)
Three patients are reported on who developed transient generalised weakness after receiving therapeutic doses of botulinum toxin for cervical dystonia (one case) and symptomatic hemidystonia (two cases) respectively. Clinical and electrophysiological findings were in keeping with mild botulism. All patients had received previous botulinum toxin injections without side effects and one patient continued injections without recurrence of generalised weakness. The cause is most likely presynaptic inhibition due to systemic spread of the toxin. Patients with symptomatic dystonia may be more likely to have this side effect and botulinum toxin injections in these patients should be carried out cautiously. (+info)Clinical genetics of familial progressive supranuclear palsy. (6/432)
Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural tremor, three with dementia, one with parkinsonism, two with tremor, dystonia, gaze palsy and tics, and one with gait disturbance. The presence of affected members in at least two generations in eight of the families and the absence of consanguinity suggests autosomal dominant transmission with incomplete penetrance. We conclude that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease. (+info)Abnormal cortical processing of voluntary muscle relaxation in patients with focal hand dystonia studied by movement-related potentials. (7/432)
In order to clarify the abnormality in cortical motor preparation for voluntary muscle relaxation of the hand in patients with focal hand dystonia, Bereitschaftspotentials (BPs) preceding voluntary muscle contraction and relaxation were recorded in eight patients (three with simple writer's cramp and five with dystonic writer's cramp), and were compared with those from 10 normal subjects. Voluntary muscle relaxation: after keeping the right wrist in an extended position for > 5 s, the subject let the hand drop by voluntarily terminating muscle contraction of the wrist extensor without any associated muscle contraction. Voluntary muscle contraction: the right wrist was flexed by voluntarily contracting the wrist flexor muscle. Scalp EEGs were recorded from 11 electrodes placed over the frontal, central and parietal areas. In the control group, the BP measured at the movement onset was maximal at the left central area (C1), and distributed predominantly over the left hemisphere equally in both the contraction and relaxation tasks. In the focal hand dystonia group, BP was maximal at C1 in the contraction task, whereas, in the relaxation task, it was maximal at the midline central area (Cz) and symmetrically distributed. At the left central area, the BP amplitude in the focal hand dystonia group was diminished significantly in the relaxation task compared with the contraction task (P < 0.05). The present results demonstrate for the first time that the cortical preparatory process for voluntary muscle relaxation, or motor inhibition, is abnormal in focal hand dystonia. (+info)Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. (8/432)
OBJECTIVES: Little is known about factors influencing the spread of blepharospasm to other body parts. An investigation was carried out to deterrmine whether demographic features (sex, age at blepharospasm onset), putative risk, or protective factors for blepharospasm (family history of dystonia or tremor, previous head or face trauma with loss of consciousness, ocular diseases, and cigarette smoking), age related diseases (diabetes, hypertension), edentulousness, and neck or trunk trauma preceding the onset of blepharospasm could distinguish patients with blepharospasm who had spread of dystonia from those who did not. METHODS: 159 outpatients presenting initially with blepharospasm were selected in 16 Italian Institutions. There were 104 patients with focal blepharospasm (mean duration of disease 5.3 (SD 1.9) years) and 55 patients in whom segmental or multifocal dystonia developed (mainly in the cranial cervical area) 1.5 (1.2) years after the onset of blepharospasm. Information was obtained from a standardised questionnaire administered by medical interviewers. A Cox regression model was used to examine the relation between the investigated variables and spread. RESULTS: Previous head or face trauma with loss of consciousness, age at the onset of blepharospasm, and female sex were independently associated with an increased risk of spread. A significant association was not found between spread of dystonia and previous ocular diseases, hypertension, diabetes, neck or trunk trauma, edentulousness, cigarette smoking, and family history of dystonia or tremor. An unsatisfactory study power negatively influenced the validity and accuracy of the negative findings relative to diabetes, neck or trunk trauma, and cigarette smoking. CONCLUSIONS: The results of this exploratory study confirm that patients presenting initially with blepharospasm are most likely to experience some spread of dystonia within a few years of the onset of blepharospasm and suggest that head or face trauma with loss of consciousness preceding the onset, age at onset, and female sex may be relevant to spread. The suggested association between edentulousness and cranial cervical dystonia may be apparent because of the confounding effect of both age at onset and head or face trauma with loss of consciousness. The lack of influence of family history of dystonia on spread is consistent with previous findings indicating that the inheritance pattern is the same for focal and segmental blepharospasm. (+info)Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, leading to repetitive or twisting movements. These movements can be painful and may affect one part of the body (focal dystonia) or multiple parts (generalized dystonia). The exact cause of dystonia varies, with some cases being inherited and others resulting from damage to the brain. Treatment options include medications, botulinum toxin injections, and deep brain stimulation surgery.
Dystonic disorders are a group of neurological conditions characterized by sustained or intermittent muscle contractions that result in involuntary, repetitive, and often twisting movements and abnormal postures. These movements can affect any part of the body, including the face, neck, limbs, and trunk. Dystonic disorders can be primary, meaning they are caused by genetic mutations or idiopathic causes, or secondary, resulting from brain injury, infection, or other underlying medical conditions.
The most common form of dystonia is cervical dystonia (spasmodic torticollis), which affects the muscles of the neck and results in abnormal head positioning. Other forms of dystonia include blepharospasm (involuntary eyelid spasms), oromandibular dystonia (affecting the muscles of the jaw, face, and tongue), and generalized dystonia (affecting multiple parts of the body).
Dystonic disorders can significantly impact a person's quality of life, causing pain, discomfort, and social isolation. Treatment options include oral medications, botulinum toxin injections, and deep brain stimulation surgery in severe cases.
'Dystonia Musculorum Deformans' is a medical term that refers to a rare inherited neurological disorder, which is now more commonly known as "Generalized Dystonia." This condition is characterized by sustained muscle contractions, leading to twisting and repetitive movements or abnormal postures.
The onset of symptoms typically occurs during childhood or adolescence, and they can progress over time, affecting various parts of the body. The exact cause of Generalized Dystonia is not fully understood, but it is believed to involve genetic mutations that affect the functioning of certain proteins in the brain. Treatment options may include medications, botulinum toxin injections, or even deep brain stimulation surgery in severe cases.
Torticollis, also known as wry neck, is a condition where the neck muscles contract and cause the head to turn to one side. There are different types of torticollis including congenital (present at birth), acquired (develops after birth), and spasmodic (neurological).
Congenital torticollis can be caused by a tight or shortened sternocleidomastoid muscle in the neck, which can occur due to positioning in the womb or abnormal blood vessels in the muscle. Acquired torticollis can result from injury, infection, or tumors in the neck. Spasmodic torticollis is a neurological disorder that causes involuntary contractions of the neck muscles and can be caused by a variety of factors including genetics, environmental toxins, or head trauma.
Symptoms of torticollis may include difficulty turning the head, tilting the chin upwards or downwards, pain or discomfort in the neck, and a limited range of motion. Treatment for torticollis depends on the underlying cause and can include physical therapy, stretching exercises, medication, or surgery.
Anti-dyskinetic agents are a class of medications that are used to treat or manage dyskinesias, which are involuntary movements or abnormal muscle contractions. These medications work by blocking or reducing the activity of dopamine, a neurotransmitter in the brain that is involved in movement control.
Dyskinetic symptoms can occur as a side effect of long-term use of levodopa therapy in patients with Parkinson's disease. Anti-dyskinetic agents such as amantadine, anticholinergics, and dopamine agonists may be used to manage these symptoms.
Amantadine works by increasing the release of dopamine and blocking its reuptake, which can help reduce dyskinesias. Anticholinergic medications such as trihexyphenidyl and benztropine work by blocking the action of acetylcholine, another neurotransmitter that can contribute to dyskinesias. Dopamine agonists such as pramipexole and ropinirole mimic the effects of dopamine in the brain and can help reduce dyskinesias by reducing the dose of levodopa required for symptom control.
It is important to note that anti-dyskinetic agents may have side effects, and their use should be carefully monitored by a healthcare provider.
Blepharospasm is a medical condition characterized by involuntary spasms and contractions of the muscles around the eyelids. These spasms can cause frequent blinkings, eye closure, and even difficulty in keeping the eyes open. In some cases, the spasms may be severe enough to interfere with vision, daily activities, and quality of life.
The exact cause of blepharospasm is not fully understood, but it is believed to involve abnormal functioning of the basal ganglia, a part of the brain that controls movement. It can occur as an isolated condition (known as essential blepharospasm) or as a symptom of other neurological disorders such as Parkinson's disease or dystonia.
Treatment options for blepharospasm may include medication, botulinum toxin injections, surgery, or a combination of these approaches. The goal of treatment is to reduce the frequency and severity of the spasms, improve symptoms, and enhance the patient's quality of life.
Meige Syndrome, also known as Brueghel's syndrome or Hemifacial spasm-blepharospasm syndrome, is a rare neurological disorder characterized by the simultaneous contraction of muscles in the face, neck, and sometimes other parts of the body. It is a form of dystonia, which is a movement disorder that causes involuntary muscle contractions and abnormal postures.
Meige Syndrome is typically divided into two types:
1. Ocular Meige Syndrome: This type primarily affects the muscles around the eyes, causing involuntary spasms, blinks, and eyelid closure.
2. Cranio-cervical Dystonia or Brueghel's syndrome: This type involves both the cranial (head) and cervical (neck) regions, leading to abnormal head postures, neck pain, and involuntary movements of the facial muscles.
The exact cause of Meige Syndrome is not fully understood, but it is believed to be related to abnormal functioning in the basal ganglia, a part of the brain responsible for controlling movement. In some cases, it may be associated with structural lesions or vascular abnormalities in the brain.
Treatment options for Meige Syndrome include medications such as botulinum toxin (Botox) injections, which help to relax the overactive muscles and reduce spasms. In severe cases, surgical interventions may be considered.
The Globus Pallidus is a structure in the brain that is part of the basal ganglia, a group of nuclei associated with movement control and other functions. It has two main subdivisions: the external (GPe) and internal (GPi) segments. The GPe receives input from the striatum and sends inhibitory projections to the subthalamic nucleus, while the GPi sends inhibitory projections to the thalamus, which in turn projects to the cerebral cortex. These connections allow for the regulation of motor activity, with abnormal functioning of the Globus Pallidus being implicated in various movement disorders such as Parkinson's disease and Huntington's disease.
A muscle cramp is an involuntary and forcibly contracted muscle that does not relax. It can involve partial or complete muscle groups, often occurring in the legs and feet (hamstrings, quadriceps, calves, and foot intrinsic muscles) during or after exercise, at night, or while resting. The exact cause of muscle cramps is unclear, but they can be associated with muscle fatigue, heavy exercising, dehydration, electrolyte imbalances, or underlying medical conditions (e.g., nerve compression or disorders, hormonal imbalances). The primary symptom is a sudden, sharp pain in the affected muscle, which may be visibly tightened and hard to touch. Most muscle cramps resolve on their own within a few minutes, but gentle stretching, massage, or applying heat/cold can help alleviate discomfort.
Movement disorders are a group of neurological conditions that affect the control and coordination of voluntary movements. These disorders can result from damage to or dysfunction of the cerebellum, basal ganglia, or other parts of the brain that regulate movement. Symptoms may include tremors, rigidity, bradykinesia (slowness of movement), akathisia (restlessness and inability to remain still), dystonia (sustained muscle contractions leading to abnormal postures), chorea (rapid, unpredictable movements), tics, and gait disturbances. Examples of movement disorders include Parkinson's disease, Huntington's disease, Tourette syndrome, and dystonic disorders.
Deep brain stimulation (DBS) is a surgical procedure that involves the implantation of a medical device called a neurostimulator, which sends electrical impulses to specific targets in the brain. The impulses help to regulate abnormal brain activity, and can be used to treat a variety of neurological conditions, including Parkinson's disease, essential tremor, dystonia, and obsessive-compulsive disorder.
During the procedure, electrodes are implanted into the brain and connected to the neurostimulator, which is typically implanted in the chest. The neurostimulator can be programmed to deliver electrical impulses at varying frequencies, amplitudes, and pulse widths, depending on the specific needs of the patient.
DBS is generally considered a safe and effective treatment option for many patients with neurological conditions, although it does carry some risks, such as infection, bleeding, and hardware complications. It is typically reserved for patients who have not responded well to other forms of treatment, or who experience significant side effects from medication.
Botulinum toxins are neurotoxic proteins produced by the bacterium Clostridium botulinum and related species. They are the most potent naturally occurring toxins, and are responsible for the paralytic illness known as botulism. There are seven distinct botulinum toxin serotypes (A-G), each of which targets specific proteins in the nervous system, leading to inhibition of neurotransmitter release and subsequent muscle paralysis.
In clinical settings, botulinum toxins have been used for therapeutic purposes due to their ability to cause temporary muscle relaxation. Botulinum toxin type A (Botox) is the most commonly used serotype in medical treatments, including management of dystonias, spasticity, migraines, and certain neurological disorders. Additionally, botulinum toxins are widely employed in aesthetic medicine for reducing wrinkles and fine lines by temporarily paralyzing facial muscles.
It is important to note that while botulinum toxins have therapeutic benefits when used appropriately, they can also pose significant health risks if misused or improperly handled. Proper medical training and supervision are essential for safe and effective utilization of these powerful toxins.
I'm sorry for any confusion, but "handwriting" is not a term that has a specific medical definition. Handwriting refers to the personal style or manner in which a person writes by hand. It can vary from person to person and can be influenced by factors such as an individual's fine motor skills, cultural background, and personal preferences.
However, in a broader context, there are certain medical conditions that can affect handwriting, such as neurological disorders (like stroke, Parkinson's disease, or cerebral palsy) or orthopedic issues (like arthritis or fractures). In these cases, healthcare professionals might assess a person's handwriting as part of the diagnostic process or to monitor the progression or treatment response of a condition. But again, handwriting itself is not a medical term with a specific definition.
Neuromuscular agents are drugs or substances that affect the function of the neuromuscular junction, which is the site where nerve impulses are transmitted to muscles. These agents can either enhance or inhibit the transmission of signals across the neuromuscular junction, leading to a variety of effects on muscle tone and activity.
Neuromuscular blocking agents (NMBAs) are a type of neuromuscular agent that is commonly used in anesthesia and critical care settings to induce paralysis during intubation or mechanical ventilation. NMBAs can be classified into two main categories: depolarizing and non-depolarizing agents.
Depolarizing NMBAs, such as succinylcholine, work by activating the nicotinic acetylcholine receptors at the neuromuscular junction, causing muscle contraction followed by paralysis. Non-depolarizing NMBAs, such as rocuronium and vecuronium, block the activation of these receptors, preventing muscle contraction and leading to paralysis.
Other types of neuromuscular agents include cholinesterase inhibitors, which increase the levels of acetylcholine at the neuromuscular junction and can be used to reverse the effects of NMBAs, and botulinum toxin, which is a potent neurotoxin that inhibits the release of acetylcholine from nerve terminals and is used in the treatment of various neurological disorders.
In medical terms, a hand is the part of the human body that is attached to the forearm and consists of the carpus (wrist), metacarpus, and phalanges. It is made up of 27 bones, along with muscles, tendons, ligaments, and other soft tissues. The hand is a highly specialized organ that is capable of performing a wide range of complex movements and functions, including grasping, holding, manipulating objects, and communicating through gestures. It is also richly innervated with sensory receptors that provide information about touch, temperature, pain, and proprioception (the sense of the position and movement of body parts).
Molecular chaperones are a group of proteins that assist in the proper folding and assembly of other protein molecules, helping them achieve their native conformation. They play a crucial role in preventing protein misfolding and aggregation, which can lead to the formation of toxic species associated with various neurodegenerative diseases. Molecular chaperones are also involved in protein transport across membranes, degradation of misfolded proteins, and protection of cells under stress conditions. Their function is generally non-catalytic and ATP-dependent, and they often interact with their client proteins in a transient manner.
Botulinum toxins type A are neurotoxins produced by the bacterium Clostridium botulinum and related species. These toxins act by blocking the release of acetylcholine at the neuromuscular junction, leading to muscle paralysis. Botulinum toxin type A is used in medical treatments for various conditions characterized by muscle spasticity or excessive muscle activity, such as cervical dystonia, blepharospasm, strabismus, and chronic migraine. It is also used cosmetically to reduce the appearance of wrinkles by temporarily paralyzing the muscles that cause them. The commercial forms of botulinum toxin type A include Botox, Dysport, and Xeomin.
Nocturnal Paroxysmal Dystonia is actually an outdated term that was previously used to describe a rare neurological disorder characterized by recurrent episodes of dystonia (sustained muscle contractions that cause twisting and repetitive movements or abnormal postures) occurring predominantly during sleep. These episodes are often associated with other symptoms such as autonomic dysfunction (e.g., sweating, tachycardia), vegetative symptoms (e.g., flushing, pallor), and sometimes pain.
Currently, this disorder is more commonly referred to as "Paroxysmal Dyskinesias" or "Nocturnal Paroxysmal Kinesigenic Dyskinesia" if the episodes are triggered by sudden movements or "Nocturnal Paroxysmal Non-Kinesigenic Dyskinesia" if they occur spontaneously, without any apparent trigger. These disorders can be caused by various genetic mutations and may respond to different treatment approaches.
The entopeduncular nucleus (EP) is a small, compact collection of neurons located in the ventral region of the diencephalon, specifically within the posterior intralaminar complex of the thalamus. It is present in various mammals, including humans. The EP nucleus receives inputs from the basal ganglia and projects to the brainstem and other thalamic nuclei.
In rodents, the entopeduncular nucleus is also known as the globus pallidus internus (GPi). However, in primates, including humans, the GPi is a separate structure located near the EP nucleus. Both structures are part of the basal ganglia circuitry and play essential roles in motor control, procedural learning, and habit formation.
The entopeduncular nucleus has been implicated in several neurological conditions, such as Parkinson's disease, Huntington's disease, and dystonia. Deep brain stimulation (DBS) of the EP nucleus or GPi is an effective treatment for reducing motor symptoms associated with these disorders.
Levodopa, also known as L-dopa, is a medication used primarily in the treatment of Parkinson's disease. It is a direct precursor to the neurotransmitter dopamine and works by being converted into dopamine in the brain, helping to restore the balance between dopamine and other neurotransmitters. This helps alleviate symptoms such as stiffness, tremors, spasms, and poor muscle control. Levodopa is often combined with carbidopa (a peripheral decarboxylase inhibitor) to prevent the conversion of levodopa to dopamine outside of the brain, reducing side effects like nausea and vomiting.
GTP Cyclohydrolase is a crucial enzyme in the biosynthetic pathway of neurotransmitters and other biogenic amines. It catalyzes the conversion of GTP (guanosine triphosphate) to dihydroneopterin triphosphate, which is a key intermediate in the production of tetrahydrobiopterin (BH4). Tetrahydrobiopterin serves as a cofactor for various enzymes involved in the synthesis of neurotransmitters such as dopamine, serotonin, and noradrenaline.
There are two main isoforms of GTP Cyclohydrolase: GTPCH1 (GTP Cyclohydrolase 1) and GTPCH2 (GTP Cyclohydrolase 2). GTPCH1 is primarily expressed in the brain, kidneys, and lungs, while GTPCH2 is mainly found in the liver. Defects or mutations in the GTPCH1 gene can lead to a rare genetic disorder known as Dopa-Responsive Dystonia (DRD), which is characterized by symptoms such as muscle stiffness, involuntary movements, and Parkinsonism.
Basal ganglia diseases are a group of neurological disorders that affect the function of the basal ganglia, which are clusters of nerve cells located deep within the brain. The basal ganglia play a crucial role in controlling movement and coordination. When they are damaged or degenerate, it can result in various motor symptoms such as tremors, rigidity, bradykinesia (slowness of movement), and difficulty with balance and walking.
Some examples of basal ganglia diseases include:
1. Parkinson's disease - a progressive disorder that affects movement due to the death of dopamine-producing cells in the basal ganglia.
2. Huntington's disease - an inherited neurodegenerative disorder that causes uncontrolled movements, emotional problems, and cognitive decline.
3. Dystonia - a movement disorder characterized by sustained or intermittent muscle contractions that cause twisting and repetitive movements or abnormal postures.
4. Wilson's disease - a rare genetic disorder that causes excessive copper accumulation in the liver and brain, leading to neurological and psychiatric symptoms.
5. Progressive supranuclear palsy (PSP) - a rare brain disorder that affects movement, gait, and balance, as well as speech and swallowing.
6. Corticobasal degeneration (CBD) - a rare neurological disorder characterized by progressive loss of nerve cells in the cerebral cortex and basal ganglia, leading to stiffness, rigidity, and difficulty with movement and coordination.
Treatment for basal ganglia diseases varies depending on the specific diagnosis and symptoms but may include medication, surgery, physical therapy, or a combination of these approaches.
The basal ganglia are a group of interconnected nuclei, or clusters of neurons, located in the base of the brain. They play a crucial role in regulating motor function, cognition, and emotion. The main components of the basal ganglia include the striatum (made up of the caudate nucleus, putamen, and ventral striatum), globus pallidus (divided into external and internal segments), subthalamic nucleus, and substantia nigra (with its pars compacta and pars reticulata).
The basal ganglia receive input from various regions of the cerebral cortex and other brain areas. They process this information and send output back to the thalamus and cortex, helping to modulate and coordinate movement. The basal ganglia also contribute to higher cognitive functions such as learning, decision-making, and habit formation. Dysfunction in the basal ganglia can lead to neurological disorders like Parkinson's disease, Huntington's disease, and dystonia.
Trihexyphenidyl is an anticholinergic medication, which is primarily used to treat symptoms of Parkinson's disease, such as rigidity, tremors, muscle spasms, and poor muscle control. It works by blocking the action of acetylcholine, a neurotransmitter in the brain that is involved in the regulation of motor function. By blocking its action, trihexyphenidyl helps to reduce the symptoms of Parkinson's disease.
In addition to its use in Parkinson's disease, trihexyphenidyl may also be used to treat other conditions, such as drug-induced extrapyramidal symptoms (EPS), which are movement disorders that can occur as a side effect of certain medications, including antipsychotic drugs.
It is important to note that trihexyphenidyl can have significant side effects, particularly at higher doses, including dry mouth, blurred vision, dizziness, drowsiness, and difficulty urinating. It may also cause confusion, disorientation, and memory problems, especially in older adults or people with cognitive impairments. As with any medication, trihexyphenidyl should be used under the close supervision of a healthcare provider, who can monitor its effectiveness and potential side effects.
Chorea is a medical term that describes an involuntary movement disorder characterized by brief, irregular, and abrupt jerky movements. These movements often occur randomly and can affect any part of the body. Chorea can also cause difficulty with coordination and balance, and can sometimes be accompanied by muscle weakness or rigidity.
The term "chorea" comes from the Greek word "χορεία" (khoréia), which means "dance," reflecting the graceful, dance-like movements that are characteristic of this condition. Chorea can occur as a symptom of various underlying medical conditions, including neurological disorders such as Huntington's disease, Sydenham's chorea, and cerebral palsy, as well as metabolic disorders, infections, and certain medications.
Treatment for chorea depends on the underlying cause of the condition and may include medications to help control the involuntary movements, physical therapy to improve coordination and balance, and lifestyle modifications to reduce the risk of injury from falls or other accidents. In some cases, surgery may be recommended as a last resort for severe or refractory chorea.
Complex Regional Pain Syndromes (CRPS) are a group of chronic pain conditions that typically affect a limb after an injury or trauma. They are characterized by prolonged, severe and often debilitating pain that is out of proportion to the severity of the initial injury. CRPS is divided into two types:
1. CRPS-1 (also known as Reflex Sympathetic Dystrophy): This type occurs without a clearly defined nerve injury. It usually develops after an illness or injury that didn't directly damage the nerves.
2. CRPS-2 (also known as Causalgia): This type is associated with a confirmed nerve injury.
The symptoms of CRPS include:
* Continuous, burning or throbbing pain in the affected limb
* Changes in skin temperature, color and texture
* Swelling and stiffness in the joints
* Decreased range of motion and weakness in the affected limb
* Sensitivity to touch or cold
* Abnormal sweating pattern in the affected area
* Changes in nail and hair growth patterns
The exact cause of CRPS is not fully understood, but it is thought to be related to a dysfunction in the nervous system's response to injury. Treatment for CRPS typically involves a combination of medications, physical therapy, and psychological support. In some cases, more invasive treatments such as nerve blocks or spinal cord stimulation may be recommended.
Drug-induced dyskinesia is a movement disorder that is characterized by involuntary muscle movements or abnormal posturing of the body. It is a side effect that can occur from the long-term use or high doses of certain medications, particularly those used to treat Parkinson's disease and psychosis.
The symptoms of drug-induced dyskinesia can vary in severity and may include rapid, involuntary movements of the limbs, face, or tongue; twisting or writhing movements; and abnormal posturing of the arms, legs, or trunk. These symptoms can be distressing and negatively impact a person's quality of life.
The exact mechanism by which certain medications cause dyskinesia is not fully understood, but it is thought to involve changes in the levels of dopamine, a neurotransmitter that plays a key role in regulating movement. In some cases, adjusting the dose or switching to a different medication may help alleviate the symptoms of drug-induced dyskinesia. However, in severe cases, additional treatments such as deep brain stimulation or botulinum toxin injections may be necessary.
Electromyography (EMG) is a medical diagnostic procedure that measures the electrical activity of skeletal muscles during contraction and at rest. It involves inserting a thin needle electrode into the muscle to record the electrical signals generated by the muscle fibers. These signals are then displayed on an oscilloscope and may be heard through a speaker.
EMG can help diagnose various neuromuscular disorders, such as muscle weakness, numbness, or pain, and can distinguish between muscle and nerve disorders. It is often used in conjunction with other diagnostic tests, such as nerve conduction studies, to provide a comprehensive evaluation of the nervous system.
EMG is typically performed by a neurologist or a physiatrist, and the procedure may cause some discomfort or pain, although this is usually minimal. The results of an EMG can help guide treatment decisions and monitor the progression of neuromuscular conditions over time.
Essential tremor is a type of involuntary tremor, or shaking, that primarily affects the hands and arms. It can also affect the head, vocal cords, and other parts of the body. Essential tremor is often confused with Parkinson's disease, as they share some similar symptoms, but essential tremor is generally not associated with other neurological conditions.
The tremors associated with essential tremor typically occur when a person is performing voluntary movements, such as writing, eating, or using tools. The shaking may also occur at rest, but this is less common. Essential tremor usually worsens with stress, fatigue, and age.
While the exact cause of essential tremor is not known, it appears to have a genetic component, as it tends to run in families. In some cases, essential tremor may be related to alcohol use or other factors. There is no cure for essential tremor, but medications and lifestyle changes can help manage the symptoms and improve quality of life.
A spasm is a sudden, involuntary contraction or tightening of a muscle, group of muscles, or a hollow organ such as the ureter or bronchi. Spasms can occur as a result of various factors including muscle fatigue, injury, irritation, or abnormal nerve activity. They can cause pain and discomfort, and in some cases, interfere with normal bodily functions. For example, a spasm in the bronchi can cause difficulty breathing, while a spasm in the ureter can cause severe pain and may lead to a kidney stone blockage. The treatment for spasms depends on the underlying cause and may include medication, physical therapy, or lifestyle changes.
Facial muscles, also known as facial nerves or cranial nerve VII, are a group of muscles responsible for various expressions and movements of the face. These muscles include:
1. Orbicularis oculi: muscle that closes the eyelid and raises the upper eyelid
2. Corrugator supercilii: muscle that pulls the eyebrows down and inward, forming wrinkles on the forehead
3. Frontalis: muscle that raises the eyebrows and forms horizontal wrinkles on the forehead
4. Procerus: muscle that pulls the medial ends of the eyebrows downward, forming vertical wrinkles between the eyebrows
5. Nasalis: muscle that compresses or dilates the nostrils
6. Depressor septi: muscle that pulls down the tip of the nose
7. Levator labii superioris alaeque nasi: muscle that raises the upper lip and flares the nostrils
8. Levator labii superioris: muscle that raises the upper lip
9. Zygomaticus major: muscle that raises the corner of the mouth, producing a smile
10. Zygomaticus minor: muscle that raises the nasolabial fold and corner of the mouth
11. Risorius: muscle that pulls the angle of the mouth laterally, producing a smile
12. Depressor anguli oris: muscle that pulls down the angle of the mouth
13. Mentalis: muscle that raises the lower lip and forms wrinkles on the chin
14. Buccinator: muscle that retracts the cheek and helps with chewing
15. Platysma: muscle that depresses the corner of the mouth and wrinkles the skin of the neck.
These muscles are innervated by the facial nerve, which arises from the brainstem and exits the skull through the stylomastoid foramen. Damage to the facial nerve can result in facial paralysis or weakness on one or both sides of the face.
Sensation disorders are conditions that affect the nervous system's ability to receive and interpret sensory information from the environment. These disorders can affect any of the five senses, including sight, hearing, touch, taste, and smell. They can result in symptoms such as numbness, tingling, pain, or loss of sensation in various parts of the body.
Some common types of sensation disorders include:
1. Neuropathy: A disorder that affects the nerves, often causing numbness, tingling, or pain in the hands and feet.
2. Central pain syndrome: A condition that results from damage to the brain or spinal cord, leading to chronic pain.
3. Tinnitus: A ringing or buzzing sound in the ears that can be a symptom of an underlying hearing disorder.
4. Ageusia: The loss of taste sensation, often caused by damage to the tongue or nerves that transmit taste information to the brain.
5. Anosmia: The loss of smell sensation, which can result from a variety of causes including injury, infection, or neurological disorders.
Sensation disorders can have significant impacts on a person's quality of life and ability to perform daily activities. Treatment may involve medication, physical therapy, or other interventions aimed at addressing the underlying cause of the disorder.
The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.
Dyskinesias are a type of movement disorder characterized by involuntary, erratic, and often repetitive muscle movements. These movements can affect any part of the body and can include twisting, writhing, or jerking motions, as well as slow, writhing contortions. Dyskinesias can be caused by a variety of factors, including certain medications (such as those used to treat Parkinson's disease), brain injury, stroke, infection, or exposure to toxins. They can also be a side effect of some medical treatments, such as radiation therapy or chemotherapy.
Dyskinesias can have a significant impact on a person's daily life, making it difficult for them to perform routine tasks and affecting their overall quality of life. Treatment for dyskinesias depends on the underlying cause and may include medication adjustments, surgery, or physical therapy. In some cases, dyskinesias may be managed with the use of assistive devices or by modifying the person's environment to make it easier for them to move around.
Parkinsonian disorders are a group of neurological conditions characterized by motor symptoms such as bradykinesia (slowness of movement), rigidity, resting tremor, and postural instability. These symptoms are caused by the degeneration of dopamine-producing neurons in the brain, particularly in the substantia nigra pars compacta.
The most common Parkinsonian disorder is Parkinson's disease (PD), which is a progressive neurodegenerative disorder. However, there are also several other secondary Parkinsonian disorders, including:
1. Drug-induced parkinsonism: This is caused by the use of certain medications, such as antipsychotics and metoclopramide.
2. Vascular parkinsonism: This is caused by small vessel disease in the brain, which can lead to similar symptoms as PD.
3. Dementia with Lewy bodies (DLB): This is a type of dementia that shares some features with PD, such as the presence of alpha-synuclein protein clumps called Lewy bodies.
4. Progressive supranuclear palsy (PSP): This is a rare brain disorder that affects movement, gait, and eye movements.
5. Multiple system atrophy (MSA): This is a progressive neurodegenerative disorder that affects multiple systems in the body, including the autonomic nervous system, motor system, and cerebellum.
6. Corticobasal degeneration (CBD): This is a rare neurological disorder that affects both movement and cognition.
It's important to note that while these disorders share some symptoms with PD, they have different underlying causes and may require different treatments.
Dystonia
Oromandibular dystonia
Focal dystonia
Torsion dystonia
Myoclonic dystonia
Juvenile-onset dystonia
Dopamine-responsive dystonia
Paroxysmal exercise-induced dystonia
X-linked dystonia parkinsonism
Basal ganglia
Dartitis
Blepharospasm
Spasmodic dysphonia
Lataisia Jones
Tourette syndrome
Tetrahydrocannabinol
Tic
Tourettism
Carlos Cruchaga
Diazepam
List of OMIM disorder codes
Cerebral palsy
Bernard Zinck
Fluperlapine
2009 swine flu pandemic vaccine
Dipraglurant
Michael Houstoun
Derek Thompson (actor)
Adrenoleukodystrophy
Dyskinetic cerebral palsy
Dystonia - Wikipedia
Dystonia 16: MedlinePlus Genetics
Experimental Botulinum Toxin More Effective in Cervical Dystonia?
Tardive Dystonia: Practice Essentials, Background, Pathophysiology
Dystonia | University Hospitals
Focal Dystonia: Treatment, Symptoms, and More
Dystonia
Dystonia and ataxia progression in spinocerebellar ataxias
Dystonia | Congress 2019
Medtronic Dystonia Treatment Options for Neurological Movement Disorder
Deep Brain Stimulation for Dystonia - Living with DBS | Medtronic
Twin Cities Dystonia Zoo Day is Back on October 2nd -- Dystonia Medical Research Foundation | PRLog
Dystonia awareness champion has street named in his honor
Dystonia Animated | Dystonia UK
Dystonia in multiple system atrophy | Journal of Neurology, Neurosurgery & Psychiatry
How to Get SSDI or SSI Disability Benefits for Dystonia | DisabilitySecrets
Reserpine Treatment of Comorbid Tourette's Disorder and Tardive Dystonia | Psychiatrist.com
Essential tremor and dystonia | Neurology
Norway - Dystonia Europe
Dystonia Clinic - St. Vincent's University Hospital
Cervical Dystonia | RxMed: Diseases and Preparations' Description
dystonia Archives - Division of Biology & Biomedical Sciences
Dystonia - Plastic Surgery Practice
The genetics of idiopathic torsion dystonia. | Journal of Medical Genetics
Splints for Dystonia: Assisting with Dystonia Management
Dystonia Medical Research Foundation
thap1 | Dystonia Medical Research Foundation
ST Dystonia Publication - Billy McLaughlin
Management of dystonia in paediatric palliative care | Archives of Disease in Childhood
Cervical47
- Experimental Botulinum Toxin More Effective in Cervical Dystonia? (medscape.com)
- An investigative formulation of a botulinum neurotoxin (BoNT) for cervical dystonia may significantly reduce the risk of dysphagia after injection compared with existing injections, and may have a longer duration of beneficial effect, according to results of a phase 3 clinical trial presented at the virtual International Congress of Parkinson's Disease and Movement Disorders. (medscape.com)
- The ASPEN-1 trial evaluated 301 patients with moderate to severe cervical dystonia for up to 36 weeks and found that those receiving two doses of DaxibotulinumtoxinA, known as DAXI, versus placebo improved their scores on the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), said Joseph Jankovic, MD, professor of neurology and director of the Parkinson's Disease Center and Movement Disorders Clinic at Baylor College of Medicine in Houston. (medscape.com)
- Botulinum neurotoxin is clearly the treatment of choice for cervical dystonia," Jankovic said in an interview. (medscape.com)
- Side effects "were remarkably minimal," Jankovic said, "but I want to call attention to the low frequency of neck weakness or dysphagia in comparison with other studies of botulinum toxin in cervical dystonia. (medscape.com)
- The one thing we worry about most in people with cervical dystonia are swallowing and choking - dysphagia - and the numbers are very modest: 2 out of 127 in the 125U dose and 5 of 130 in the 250U dose," he said. (medscape.com)
- Including generalised and segmental dystonia, hemidystonia, and cervical dystonia. (medtronic.com)
- Humanitarian Device - Authorized by Federal Law as an aid in the management of chronic, intractable (drug refractory) primary dystonia, including generalized and/or segmental dystonia, hemidystonia, and cervical dystonia (torticollis), in patients seven years of age or above. (medtronic.com)
- The Zoo Walk is organized by members of the Minnesota Dystonia Support Group including group leader Brad Schmitt who developed cervical dystonia, affecting his neck, in 2008. (prlog.org)
- Cervical dystonia is among the most common types of dystonia and yet is frequently misdiagnosed due to a lack of awareness even among medical professionals. (prlog.org)
- Of 296 patients with idiopathic dystonia, 24 had dystonic tremor, 20 with cervical dystonia had an isolated head-nodding tremor, two patients with writer's cramp had ipsilateral hand tremor, and two patients with generalized dystonia had arm tremor. (neurology.org)
- Eight patients, all with cervical dystonia, had essential tremor that preceded the onset of their dystonia. (neurology.org)
- Cervical dystonia is a painful displacement and curvature of the neck. (rxmed.com)
- With cervical dystonia, the head is inclined sideways and turned in one direction. (rxmed.com)
- Cervical dystonia sometimes pass without treatment. (rxmed.com)
- Any person can have this type of cervical dystonia. (rxmed.com)
- Symptoms of cervical dystonia can develop slowly. (rxmed.com)
- Several tests can be performed to establish the cause of cervical dystonia. (rxmed.com)
- In some patients, cervical dystonia develop similar symptoms in adjacent areas, for example, in the shoulder or face area. (rxmed.com)
- In addition, pain caused by cervical dystonia can cause depression. (rxmed.com)
- Currently there are no ways to prevent cervical dystonia. (rxmed.com)
- Congenital forms of cervical dystonia can be corrected by stretching the muscles of the neck. (rxmed.com)
- The acquired cervical dystonia is treated depending on the cause. (rxmed.com)
- deep brain stimulation for the cessation of nerve signals - is used in the most severe cases of the cervical dystonia. (rxmed.com)
- Cervical dystonia caused by a small injury or disease is likely temporary and easily treated. (rxmed.com)
- However, congenital and severe forms of cervical dystonia may lead to health problems in the future. (rxmed.com)
- Correcting cervical dystonia in infants and children is much easier. (rxmed.com)
- Communication with other people with cervical dystonia or with similar conditions will help to cope with the situation. (rxmed.com)
- For instance, consider the case of John, a 42-year-old man diagnosed with cervical dystonia. (care4dystonia.org)
- Several studies have examined the use of splints in various forms of dystonia, including cervical, upper limb, and lower limb dystonia. (care4dystonia.org)
- For cervical dystonia, custom-made cervical collars or neck braces have shown promise in providing support and reducing abnormal head postures. (care4dystonia.org)
- Spasmodic Torticollis (ST), and/or cervical dystonia, is a neurological condition thought to originate in the basal ganglia portion of the brain. (billymclaughlin.com)
- Can you lift weights and exercise if you have cervical dystonia? (healthtap.com)
- TDTs were examined in 23 sporadic Cervical Dystonia patients, 24 of their first degree relatives (10 siblings and 14 offspring) and 51 controls using visual (2 LED lights), tactile (nonpainful electrical stimulation) and mixed (1 LED, 1 electrical) stimuli. (bmj.com)
- In the 23 cervical dystonia patients, TDT abnormalities were detected in 100% of cases. (bmj.com)
- Botox for cervical dystonia: Effectiveness and more (2022). (abmp.com)
- https://www.medicalnewstoday.com/articles/drugs-botox-for-cervical-dystonia (Accessed: 13 September 2022). (abmp.com)
- Cervical dystonia is the most common form of focal dystonia and is a highly disabling movement disorder characterised by involuntary, usually painful, head posturing. (edgehill.ac.uk)
- Objectives: To compare the efficacy, safety, and tolerability of botulinum toxin type A (BtA) versus placebo in people with cervical dystonia. (edgehill.ac.uk)
- Selection criteria: Double-blind, parallel, randomised, placebo-controlled trials (RCTs) of BtA versus placebo in adults with cervical dystonia. (edgehill.ac.uk)
- The primary efficacy outcome was improvement in cervical dystonia-specific impairment. (edgehill.ac.uk)
- Main results: We included eight RCTs of moderate overall risk of bias, including 1010 participants with cervical dystonia. (edgehill.ac.uk)
- Authors' conclusions: We have moderate certainty in the evidence that a single BtA treatment session is associated with a significant and clinically relevant reduction of cervical dystonia-specific impairment, including severity, disability, and pain, and that it is well tolerated, when compared with placebo. (edgehill.ac.uk)
- Methods: In a single-center cross-sectional case-control study, we evaluated the presence of pain, neuropsychiatric symptoms, and sleep alterations in 28 patients with blepharospasm, 28 patients with cervical dystonia, 24 patients with writer's cramp, and 80 control subjects matched for sex, age, and schooling. (columbia.edu)
- In addition, Addex recently reported on 9 January, plans to start clinical testing of the therapeutic effect of dipraglurant in patients with cervical dystonia in collaboration with Professor Dirk Dressler of The Hannover Medical School. (addexpharma.com)
- Cortical mechanisms of sensory trick in cervical dystonia. (bvsalud.org)
- Patients with cervical dystonia (CD) often show an improvement in dystonic posture after sensory trick (ST), though the mechanisms underlying ST remain unclear. (bvsalud.org)
Forms of dystonia6
- Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. (medlineplus.gov)
- Do you have the genetic forms of dystonia known as DYT6 (THAP1) or DYT25 (GNAL)? (dystonia-foundation.org)
- https://www.dystonia.ie/forms-of-dystonia/secondary-dystonias/environmen. (abmp.com)
- There are multiple forms of dystonia, and up to 100 diseases and conditions include dystonia as a prominent symptom. (addexpharma.com)
- ANO3/DYT24) and only 11 'DYT' genes have been unequivocally demonstrated to cause different forms of dystonia. (uni-luebeck.de)
- Although secondary forms of dystonia are frequently associated with structural lesions of the basal ganglia and thalamus, no consistent histologic or biochemical findings are noted in primary torsion dystonia. (medscape.com)
Symptoms24
- Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles. (wikipedia.org)
- Dystonia is classified by: Clinical characteristics such as age of onset, body distribution, nature of the symptoms, and associated features such as additional movement disorders or neurological symptoms, and Cause (which includes changes or damage to the nervous system and inheritance). (wikipedia.org)
- Symptoms vary according to the kind of dystonia involved. (wikipedia.org)
- The symptoms worsen significantly with use, especially in the case of focal dystonia, and a "mirror effect" is often observed in other body parts: Use of the right hand may cause pain and cramping in that hand as well as in the other hand and legs that were not being used. (wikipedia.org)
- The signs and symptoms of dystonia 16 vary among people with the condition. (medlineplus.gov)
- The signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders. (medlineplus.gov)
- Due to it's efficacy, rapidity of onset, and relative safety compared to most other interventions, it may be considered as a first-line treatment for severe tardive dystonia with focal symptoms. (medscape.com)
- As with all causes of dystonia, anticholinergic medications, baclofen, and clonazepam are effective at improving symptoms. (medscape.com)
- What are the symptoms of a focal dystonia? (healthline.com)
- The symptoms of focal dystonia can often mimic those of overuse injuries, such as carpal tunnel . (healthline.com)
- For example, a guitarist with focal dystonia may find relief from their symptoms by wearing a thin glove while playing. (healthline.com)
- DBS may be right for you if you have chronic, primary dystonia,* have not had success managing your symptoms with medication, and are 7 years of age or older. (medtronic.com)
- DBS Therapy may control some of the primary symptoms of dystonia, such as muscle spasms, twisting, involuntary contractions, posturing, and uncontrolled movements. (medtronic.com)
- The primary symptoms of dystonia are uncontrolled muscle movements and cramping, which often get worse over time. (disabilitysecrets.com)
- Your dystonia symptoms might occur or worsen when you're stressed or tired. (disabilitysecrets.com)
- One example that illustrates the impact of dystonia on individuals is the case study of John, a 35-year-old man who developed dystonic symptoms in his right hand after sustaining a traumatic brain injury. (care4dystonia.org)
- Symptoms of dystonia can vary widely depending on the affected body part and severity of the condition. (care4dystonia.org)
- Luke has no symptoms of dystonia but has been battling 20+ weeks of no exercise and no pressure on his right knee. (tylershope.org)
- After using DYT1 mouse models to study dystonic symptoms, researchers were able to link early on set dystonia to specific changes in the early stage of brain development. (tylershope.org)
- Doctors diagnose dystonia based on your symptoms and a physical exam. (msdmanuals.com)
- We varied the active contacts, voltage, and pulse width of the stimulating electrode and analyzed the deep-brain stimulator evoked potentials (DBSEPs) measured with electroencephalagoram, and assessed symptoms with the Barry-Albright dystonia scale. (ant-neuro.com)
- The aim was to assess the prevalence and correlation of non-motor symptoms in patients with common idiopathic focal or segmental dystonia. (columbia.edu)
- Dystonia symptoms can worsen due to anxiety, lack of sleep, and fatigue. (web.app)
- Dystonia and its Signs and Symptoms Dystonia is medical condition that primarily affects one or more muscles. (web.app)
Torsion dystonia8
- The genetics of idiopathic torsion dystonia. (bmj.com)
- We aimed to assess the frequency of temporal discrimination threshold (TDT) abnormities in sporadic adult-onset primary torsion dystonia (AOPTD) patients and their first degree relatives. (bmj.com)
- In 1908, Schwalbe first described primary, or idiopathic, torsion dystonia in a Jewish family, and in 1911, Oppenheim termed this dystonia musculorum deformans (DMD). (medscape.com)
- [ 2 ] Initially believed to be a manifestation of hysteria, idiopathic torsion dystonia gradually became established as a neurologic entity with a genetic basis. (medscape.com)
- Primary torsion dystonia (PTD), historically called DMD, is dystonia in isolation without brain degeneration and without an acquired cause. (medscape.com)
- Primary torsion dystonia may be focal, segmental, multifocal, or generalized, depending on which anatomic sites are involved (see Table 1). (medscape.com)
- substantial evidence implicates dysfunction in dopaminergic pathways in the pathophysiology of primary torsion dystonia. (medscape.com)
- Idiopathic torsion dystonia. (medscape.com)
Movement disorder7
- Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions result in twisting and repetitive movements or abnormal fixed postures. (wikipedia.org)
- Dystonia is the 3rd most common movement disorder. (prlog.org)
- Jason Dunn has dystonia, a chronic movement disorder affecting the brain and nervous system, for which, according to doctors, there is currently no cure. (candgnews.com)
- Dystonia is a neurological movement disorder that is estimated to affect at least 100,000 people in the UK. (dystonia.org.uk)
- 1 While well defined as a movement disorder characterised by sustained or intermittent muscle contractions associated with abnormal movement and posturing, dystonia is less well recognised and identified by clinicians. (bmj.com)
- In our lab we use hPSC-based disease modeling to study the neurological movement disorder dystonia, in particular X-linked Dystonia Parkinsonism (XDP). (labroots.com)
- Geneva, Switzerland /Chicago, USA, 19 January 2015 - Addex Therapeutics (SIX: ADXN), a leading company pioneering allosteric modulation-based drug discovery and development and the Dystonia Medical Research Foundation (DMRF) announced today entering a collaboration to explore the use of dipraglurant to treat dystonia, the third most common movement disorder following essential tremor and Parkinson's disease. (addexpharma.com)
Blepharospasm1
- Do doctors in US usualy test FL-41 glases on patients with dystonia/phtophobia/blepharospasm(no migraine)? (healthtap.com)
Types of dystonia2
- There are multiple types of dystonia, and many diseases and conditions may cause dystonia. (wikipedia.org)
- There are several different types of dystonia. (healthline.com)
Cause of dystonia3
- The cause of dystonia is not yet fully understood, in some cases at least it can be attributed to a chemical imbalance in the part of the brain called the basal ganglia, a part which helps to control movement. (dystonia.org.uk)
- In most cases, the cause of dystonia is unknown (idiopathic dystonia). (disabilitysecrets.com)
- While the exact cause of dystonia remains unclear, it is believed to be related to dysfunction within the brain's basal ganglia, which controls voluntary movement. (care4dystonia.org)
Treat dystonia3
- There are many medications that are commonly used to treat dystonia. (medtronic.com)
- Most of the medications used to treat dystonia work by affecting the neurotransmitter chemicals in the nervous system that execute the brain's instructions for muscle movement and the control of movement. (medtronic.com)
- How do doctors treat dystonia? (msdmanuals.com)
Idiopathic dystonia1
- This is called idiopathic dystonia. (rxmed.com)
Oromandibular dystonia2
- These most common dystonias are typically classified as follows: The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige's syndrome. (wikipedia.org)
- In dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. (medlineplus.gov)
Contractions8
- Tardive dystonia is characterized by involuntary muscle contractions and typically presents as abnormal posturing of voluntary muscles. (medscape.com)
- Dystonia is commonly defined as "a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. (medscape.com)
- Dystonia is a disabling brain disorder characterized by excessive, involuntary muscle contractions that cause twisting, repetitive muscle movements as well as sustained postures of the body and limbs. (prlog.org)
- Dystonia is a neurological disorder that causes uncontrollable muscle contractions, leading to involuntary and repetitive movements. (disabilitysecrets.com)
- Dystonia is believed to be related to a problem in the part of your brain that controls muscle contractions. (disabilitysecrets.com)
- Intense muscle contractions caused by dystonia can cause significant pain that interferes with your ability to focus or complete tasks. (disabilitysecrets.com)
- Dystonia is a neurological disorder characterized by involuntary muscle contractions that result in repetitive, twisting movements and abnormal postures. (care4dystonia.org)
- Dystonia is a neurological disorder characterized by persistent or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. (addexpharma.com)
DYT18
- Tyler's Hope Foundation was established to advance research for a cure, discover effective treatments and to promote awareness and education of DYT1 Dystonia. (tylershope.org)
- Investigating the essential role of torsinB, a powerful modifier for the main cause of twisting movements in torsinA dysfunction, the William Dauer grant has supported future research in DYT1 dystonia. (tylershope.org)
- According to previous research, carriers of the DYT1 dystonia mutation exhibit abnormalities in the cerebellothalamocortical motor pathways. (tylershope.org)
- Using the mice neurons, researchersi n addition hope to build a cell-culture of DYT1 dystonia. (tylershope.org)
- Dipraglurant has also been shown to normalize the effects of the TOR1A/DYT1 dystonia mutation in the brains of mice. (addexpharma.com)
- While Hermann Oppenheim probably described the first cases of genetic (DYT1) dystonia in 1911, the 'modern history' of dystonia genetics dates back to 1994 when mutations in the GTP cyclohydrolase I gene were discovered to cause dopa-responsive dystonia. (uni-luebeck.de)
- Due to the advent of next-generation sequencing, the field of dystonia genetics has been evolving very rapidly over the past two years, resulting in the reporting of 'DYT1-25' and, for the first time, in the identification of genes associated with adult-onset focal/segmental dystonia. (uni-luebeck.de)
- DMD and Oppenheim disease are terms now used for childhood- and adolescent-onset dystonia due to the DYT1 gene. (medscape.com)
Parkinson's3
- With dystonia, you might qualify for disability benefits under the listing for Parkinson's disease or just because your limitations rule out so many jobs that there's no full-time work you can do. (disabilitysecrets.com)
- You might have dystonia alone or as a symptom of another condition, like Parkinson's disease or multiple sclerosis . (disabilitysecrets.com)
- Dipraglurant, a novel small molecule inhibitor of the metabotropic glutamate receptor 5, has shown promise in the treatment of levodopa-induced dyskinesia and dystonia in Parkinson's disease. (addexpharma.com)
Affects10
- Segmental dystonias affect two adjoining parts of the body:[citation needed] Hemidystonia affects an arm and foot on one side of the body. (wikipedia.org)
- Multifocal dystonia affects many different parts of the body. (wikipedia.org)
- Generalized dystonia affects most of the body, frequently involving the legs and back. (wikipedia.org)
- Focal dystonia affects a single body part, which is usually the fingers or hands. (healthline.com)
- Focal dystonia affects the sensory processing information the brain uses to perform movements. (healthline.com)
- Delise and Dunn work in tandem to shed light on dystonia, which affects 250,000 in the United States and millions around the world. (candgnews.com)
- Dunn has generalized dystonia, which affects the entire body. (candgnews.com)
- How much dystonia affects someone's ability to function varies from person to person. (disabilitysecrets.com)
- In addition, dystonia that affects your tongue and jaw might cause slurred speech. (disabilitysecrets.com)
- Dystonia affects men, women, and children of all ages and backgrounds. (addexpharma.com)
Focal hand dystonia1
- Repetitive motion disorders, such as carpal tunnel syndrome and focal hand dystonia, can be associated with tasks that require prolonged, repetitive behaviors. (cdc.gov)
Vegetative-vascular dystonia1
- Neurocirculatory dystonia( vegetative-vascular dystonia) is a disease accompanied by vasomotor disorders and discordant reactions in various parts of the vascular system. (womensecr.com)
Deep brain stimu2
- Deep brain stimulation (DBS) of the globus pallidus is the current treatment of choice for tardive dystonia refractory to medical treatment with alternative interventions such as DBS of the subthalamic nucleus currently having a smaller body of evidence. (medscape.com)
- Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a treatment for severe childhood-onset dystonia. (ant-neuro.com)
Severity4
- Differences in the extent and severity of muscle and frequency of symptom involvement range from intermittent contraction limited to a single body region to generalized dystonia involving the limbs and axial muscles. (medscape.com)
- The presence of dystonia is associated with greater severity of ataxia in SCA1, 2, and 3, but predictive of a slower progression in SCA6. (nih.gov)
- Using pre- and postoperative videos the severity of dystonia and changes thereof during standardized settings ('on') and after the stimulator had been switched off ('off') were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). (karger.com)
- Dipraglurant reduced dystonia severity in addition to chorea, the two major LID components. (addexpharma.com)
Field of dystonia1
- The collaboration with the DMRF will give Addex access to unique networks of research and clinical experts in the field of dystonia" said Sonia Poli, CSO at Addex. (addexpharma.com)
People with dystonia3
- Some people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. (medlineplus.gov)
- With help from families and young people with dystonia, we created the first episode which centres around explaining dystonia in a format children and young people can relate to and with language suitable for their age. (dystonia.org.uk)
- While anecdotal evidence suggests that splints can be beneficial for some people with dystonia, it is important to note that research on their effectiveness is limited. (care4dystonia.org)
Therapy for Dystonia1
- Lipnicki, M. (2020) ' Massage Therapy for Dystonia: a Case Report ', International Journal of Therapeutic Massage & Bodywork, 13(2), pp. 33-44. (abmp.com)
Benefits for Dystonia1
- How Do I Get Disability Benefits for Dystonia? (disabilitysecrets.com)
20232
- Thank you for an amazing Dystonia Awareness Month 2023! (dystonia.org.uk)
- JG Thirlwell 's Dystonia album will be released by Cantaloupe Music on May 19, 2023, on CD and digitally. (foetus.org)
Spasm1
- It may briefly relieve pain from the spasm of the dystonia , but it won't make the dystonia any better or worse. (healthtap.com)
Parkinsonism2
- In dystonia 16, parkinsonism is relatively mild if it develops at all. (medlineplus.gov)
- DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. (medlineplus.gov)
Neurology1
- No studies to date have analysed differences in management of dystonia between palliative care and neurology services. (bmj.com)
Dystonic1
- Conclusion: The prospective clinical study suggests that dystonia is common in untreated MSA-P. This finding may reflect younger age at disease onset and putaminal pathology in MSA-P. Levodopa induced dyskinesias were almost exclusively dystonic affecting predominantly craniocervical musculature. (bmj.com)
Tardive dystonia5
- Tardive dystonia is one of several tardive syndromes, a group of movement disorders that occur relatively late in the course of ongoing treatment with dopamine receptor blocking agents. (medscape.com)
- Tardive dystonia is insidious in its development, often presenting first as a focal dystonia that becomes increasingly widespread over a period of months to years. (medscape.com)
- The diagnosis of tardive dystonia is a primarily clinical one based on observed phenomology and of course a history of neuroleptic exposure. (medscape.com)
- Even mild tardive dystonia frequently requires treatment. (medscape.com)
- Dopamine-depleting agents are currently the primary pharmacological treatment for tardive dystonia specfically. (medscape.com)
Genes2
- Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2. (wikipedia.org)
- We used logistic regression to analyze the impact of different repeat expansion genes on dystonia in SCAs. (nih.gov)
Abnormal2
- In most cases, dystonia tends to lead to abnormal posturing, in particular on movement. (wikipedia.org)
- The abnormal muscle tone of dystonia usually results in muscle cramping. (msdmanuals.com)
20222
Genetic4
- Environmental factors and genetic background may both play a role in a person's focal dystonia. (healthline.com)
- But it can be genetic (hereditary) or acquired (secondary dystonia), which occurs after damage to the brain from injury, environmental contaminants, or certain medications. (disabilitysecrets.com)
- Early onset primary dystonia are rare and frequently have a genetic basis (e.g. (addexpharma.com)
- Advances in the area of dystonia genetics have identified new genetic loci and increased understanding of phenotypic spectrum. (medscape.com)
Pharmacological treatment1
- 1 . Neymotin SA, Dura-Bernal S, Lakatos P, Sanger TD, Lytton WW (2016) Multitarget Multiscale Simulation for Pharmacological Treatment of Dystonia in Motor Cortex. (yale.edu)
20192
- As part of the MDS Congress 2019 Special Issue, Dr. Sara Schaefer interviews Dr. Hyder Jinnah about notable research in dystonia and activities of the MDS Dystonia Study Group. (movementdisorders.org)
- Jun 11, 2019 · CBD for dystonia can be used in a number of ways. (web.app)
Clinical6
- Additional workup may be indicated if there are clinical features suggestive of other dystonia syndromes. (medscape.com)
- To study clinical characteristics and ataxia progression in SCAs with and without dystonia. (nih.gov)
- We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and compared the clinical characteristics of SCAs with and without dystonia. (nih.gov)
- 1) Presence of dystonia, its topographical distribution and clinical pattern (tonic versus phasic movements), and onset in relation to initiation of levodopa therapy (before levodopa v after levodopa). (bmj.com)
- We obtained clinical and demographic data, and evaluated patients using the Fahn-Marsden Dystonia Rating Scale and other specific scales for dystonia. (columbia.edu)
- Based on a recent consensus approach, dystonias are subdivided on clinical grounds into isolated (with or without tremor) and combined (with other movement disorders) forms. (uni-luebeck.de)
Symptom1
- Dystonia is a challenging neurological symptom found in paediatric palliative care (PPC). (bmj.com)
Pathophysiology2
- Future studies are required to elucidate the underlying pathophysiology of dystonia in MSA. (bmj.com)
- Despite increases in the understanding of the course, psychopathology, and pathophysiology of Tourette's disorder, the use of neuroleptic medication is still a mainstay of the treatment, leaving the afflicted person vulnerable to the development of tardive dyskinesia or dystonia. (psychiatrist.com)
Adult-onset focal1
- The phenotypic spectrum associated with PTD is broad ranging, from early onset generalized to adult-onset focal dystonia. (medscape.com)
Botulinum toxin1
- An artificial intelligence tool called DystoniaBoTXNet predicted which patients with dystonia would benefit from botulinum toxin injections with 96.3% accuracy. (plasticsurgerypractice.com)
THAP11
- Another report has linked THAP1 and SLC20A2 to dystonia. (wikipedia.org)
Commonly1
- Focal dystonia can commonly occur at several different areas of the body. (healthline.com)
DMRF5
- Proceeds benefit the Dystonia Medical Research Foundation (DMRF). (prlog.org)
- The Dystonia Medical Research Foundation (DMRF) is a 501(c)(3) non-profit organization dedicated to advancing research for improved dystonia treatments and ultimately a cure, promoting awareness, and supporting the well-being of affected individuals and families. (prlog.org)
- The Dystonia Medical Research Foundation (DMRF) has stood up for the dystonia community since 1976. (dystonia-foundation.org)
- The DMRF and Addex each embody spheres of expertise that complement the other very well," said DMRF President Art Kessler, who was diagnosed with dystonia as a child. (addexpharma.com)
- Dipraglurant has shown robust efficacy in multiple models of dystonia and we look forward to collaborating with DMRF to evaluate dipraglurant in dystonia patients. (addexpharma.com)
Chronic2
Severe2
- 26 years), with a younger age of onset associated with a more generalized and severe course in primary dystonias. (medscape.com)
- Moreover, the treatment of severe forms of tardive dyskinesia or dystonia has been difficult, especially in young people. (psychiatrist.com)
Movements5
- Dystonia typically presents as repetitive or patterned movements that appear twisting or tremulous and are worsened with movement. (medscape.com)
- The Dystonia Medical Research Foundation likens the affected nerve transmission to a "computer virus" or "hard drive crash" of a person's internal programming and movements. (healthline.com)
- But the inability to control your muscle movements and the pain and exhaustion that can accompany dystonia can make it difficult to hold down a job. (disabilitysecrets.com)
- Individuals living with dystonia often experience significant challenges in their daily activities due to the unpredictable nature of these uncontrollable movements. (care4dystonia.org)
- In upper limb dystonia, splints such as wrist braces or finger orthoses may be utilized to improve hand function and reduce involuntary twisting or curling movements. (care4dystonia.org)
Cure4
- There is no current cure for focal dystonias, either through medical or at-home treatments. (healthline.com)
- Although dystonia has no cure, there are a number of treatments available for finding relief. (medtronic.com)
- The purpose of this family-friendly day at the zoo is to raise awareness of dystonia and funds for medical research toward a cure. (prlog.org)
- WARREN - Before leaving office as Warren's mayor, James Fouts renamed a street in honor of a longtime Warren resident who advocates for dystonia awareness and supports efforts to find a cure. (candgnews.com)
Mutation1
- There is a group called myoclonic dystonia where some cases are hereditary and have been associated with a missense mutation in the dopamine-D2 receptor. (wikipedia.org)
Muscle2
- Following a motor vehicle accident, a client has dystonia-a neurological problem with muscle tone. (abmp.com)
- Dystonia may affect a single body area or be generalized throughout multiple muscle groups. (addexpharma.com)
Treatment5
- DBS is a brain stimulation therapy that offers an adjustable, reversible method of treatment for dystonia. (medtronic.com)
- 7 We therefore prospectively investigated the frequency of dystonia and its relation to levodopa treatment in a group of 24 patients with MSA. (bmj.com)
- This drug represents an important opportunity for the dystonia community to examine a potential new treatment option in collaboration with established experts in drug discovery and development. (addexpharma.com)
- Bressman, Susan B. / Treatment of dystonia . (elsevierpure.com)
- Treatment of neurocirculatory dystonia should be complex. (womensecr.com)