Dystonia Musculorum Deformans
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
Osteitis Deformans
A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.
Dystonia
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Supranuclear Palsy, Progressive
A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)
Multiple System Atrophy
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
Guadeloupe
The name of two islands of the West Indies, separated by a narrow channel. Their capital is Basse-Terre. They were discovered by Columbus in 1493, occupied by the French in 1635, held by the British at various times between 1759 and 1813, transferred to Sweden in 1813, and restored to France in 1816. Its status was changed from colony to a French overseas department in 1946. Columbus named it in honor of the monastery of Santa Maria de Guadalupe in Spain. (From Webster's New Geographical Dictionary, 1988, p470 & Room, Brewer's Dictionary of Names, 1992, p221)
Bible
Bulbar Palsy, Progressive
A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)
Placebos
Any dummy medication or treatment. Although placebos originally were medicinal preparations having no specific pharmacological activity against a targeted condition, the concept has been extended to include treatments or procedures, especially those administered to control groups in clinical trials in order to provide baseline measurements for the experimental protocol.
Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia? (1/87)
Thirty-nine patients with the idiopathic blepharospasm-oromandibular dystonia syndrome are described. All presented in adult life, usually in the sixth decade; women were more commonly affected than men. Thirteen had blepharospasm alone, nine had oromandibular dystonia alone, and 17 had both. Torticollis or dystonic writer's camp preceded the syndrome in two patients. Eight other patients developed toritocollis, dystonic posturing of the arms, or involvement of respiratory muscles. No cause or hereditary basis for the illness were discovered. The evidence to indicate that this syndrome is due to an abnormality of extrapyramidal function, and that it is another example of adult-onset focal dystonia akin to spasmodic torticollis and dystonic writer's cramp, is discussed. (+info)Primary torsion dystonia: the search for genes is not over. (2/87)
A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD. (+info)Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. (3/87)
Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the basal ganglia, without apparent neuronal degeneration. Recent cloning of the gene responsible for this disease, TOR1A (DYT1), identified the encoded protein, torsinA, as a member of the AAA+ superfamily of chaperone proteins and revealed highest levels of expression in dopaminergic neurons in human brain. Most cases of this disease are caused by a deletion of one glutamic acid residue in the C-terminal region of the protein. Antibodies generated against torsinA revealed expression of a predominant immunoreactive protein species similar to the predicted size of 37.8 kDa in neural, glial and fibroblastic lines by western blot analysis. This protein is N-glycosylated with high mannose content and not, apparently, phosphoryl-ated. Overexpression of torsinA in mouse neural CAD cells followed by immunocytochemistry, revealed a dramatically different pattern of distribution for wild-type and mutant forms of the protein. The wild-type protein was found throughout the cytoplasm and neurites with a high degree of co-localization with the endoplasmic reticulum (ER) marker, protein disulfide isomerase. In contrast, the mutant protein accumulated in multiple, large inclusions in the cytoplasm around the nucleus. These inclusions were composed of membrane whorls, apparently derived from the ER. If disrupted processing of the mutant protein leads to its accumulation in multilayer membranous structures in vivo, these may interfere with membrane trafficking in neurons. (+info)Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. (4/87)
Early-onset torsion dystonia is an autosomal dominant hyperkinetic movement disorder that has recently been linked to a 3-base pair deletion in the DYT1 gene. The DYT1 gene encodes a 332-amino acid protein, torsin A, that bears low but significant homology to the Hsp100/Clp family of ATPase chaperones. The deletion in DYT1 associated with torsion dystonia results in the loss of one of a pair of glutamic acid residues residing near the C terminus of torsin A (DeltaE-torsin A). At present, little is known about the expression, subcellular distribution, and/or function of either the torsin A or DeltaE-torsin A protein. When transfected into mammalian cells, both torsin A and DeltaE-torsin A were found to behave as lumenally oriented glycoproteins. Immunofluorescence studies revealed that torsin A localized to a diffuse network of intracellular membranes displaying significant co-immunoreactivity for the endoplasmic reticulum resident protein BiP, whereas DeltaE-torsin A resided in large spheroid intracellular structures exclusive of BiP immunoreactivity. These results initially suggested that DeltaE-torsin A might exist as insoluble aggregates. However, both torsin A and DeltaE-torsin A were readily solubilized by nonionic detergents, were similarly accessible to proteases, and displayed equivalent migration patterns on sucrose gradients. Collectively, these data support that both the wild type and torsion dystonia-associated forms of torsin A are properly folded, lumenal proteins of similar oligomeric states. The potential relationship between the altered subcellular distribution of DeltaE-torsin A and the disease-inducing phenotype of the protein is discussed. (+info)A genetic study of torsion dystonia. (5/87)
A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the autosomal recessive variety. The remaining nine to 11 patients with generalized childhood dystonia are thought, because of a probable paternal age effect, to be examples of new dominant mutations. Since fitness with childhood onset is 1/20 of normal, most childhood dominant cases appear sporadically. Most of the other 15 patients (12 with onset in adult life) appear to have a non-genetic torsion dystonia, although an example of a benign adult-onset dominant form associated with a tremor has been observed. It is concluded that there are at least two forms of genetic torsion dystonia, an autosomal recessive form with onset in childhood, which, on evidence from America, is particularly common in Ashkenazi Jews, and one or more dominant forms, with onset in childhood or adult life. The majority of adult-onset isolated cases of idiopathic torsion dystonia seem to be due to exogenous but unidentified causes. (+info)Childhood organic neurological disease presenting as psychiatric disorder. (6/87)
Over a period of one year 12 children with complaints which had been diagnosed as due to a psychiatric disorder presented to a paediatric neurological unit where neurological disease was diagnosed. The group was characterized by behavioural symptoms such as deteriorating school performance, visual loss, and postural disturbance, which are unusual in children attending child psychiatric departments. It is suggested that where there is diagnostic uncertainty the presence of these physical symptoms calls for periodic neurological reassessment, and attention is drawn to the rare but serious disorders which may thus be diagnosed. Making an organic diagnosis, however, should not preclude psychosocial management of emotional reactions in these families. (+info)TorsinA: movement at many levels. (7/87)
TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without apparent neurodegeneration. Most cases result from a dominantly acting three-base pair deletion in the TOR1A gene causing loss of a glutamic acid near the carboxyl terminus of torsinA. Torsins are members of the AAA(+) superfamily of ATPases and are present in all multicellular organisms. Initial studies suggest that torsinA is an ER protein involved in chaperone functions and/or membrane movement. (+info)Inherited and de novo mutations in sporadic cases of DYT1-dystonia. (8/87)
A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three probands had the classical phenotype of DYT1-dystonia, but only one had a family history of dystonia. The other two probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the other one had a parent being an asymptomatic carrier. De novo mutations in the DYT1 gene are seldom reported although independent founder mutations are known to have occurred. The frequency of DYT1-dystonia was low in our study even though several probands had early onset generalised dystonia. None of the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia exemplified by DYT1-dystonia are outlined. (+info)Dystonia Musculorum Deformans, also known as Torticollis Spasmodica or simply Dystonia, is a neurological disorder characterized by sustained or intermittent muscle contractions that cause twisting and repetitive movements or abnormal postures.
'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.
Osteitis deformans, also known as Paget's disease of bone, is a chronic disorder characterized by disorganized and excessive bone remodeling, leading to enlarged and deformed bones that may become fragile and prone to fractures.
Osteitis deformans, also known as Paget's disease of bone, is a chronic disorder of the bone characterized by abnormal turnover and remodeling of the bone. In this condition, the bone becomes enlarged, thickened, and deformed due to excessive and disorganized bone formation and resorption.
The process begins when the bone-remodeling cycle is disrupted, leading to an imbalance between the activity of osteoclasts (cells that break down bone) and osteoblasts (cells that form new bone). In Paget's disease, osteoclasts become overactive and increase bone resorption, followed by an overzealous response from osteoblasts, which attempt to repair the damage but do so in a disorganized manner.
The affected bones can become weakened, prone to fractures, and may cause pain, deformities, or other complications such as arthritis, hearing loss, or neurological symptoms if the skull or spine is involved. The exact cause of Paget's disease remains unknown, but it is believed that genetic and environmental factors play a role in its development.
Early diagnosis and treatment can help manage the symptoms and prevent complications associated with osteitis deformans. Treatment options include medications to slow down bone turnover, pain management, and orthopedic interventions when necessary.
Dystonia is a neurological movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.
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.
Progressive Supranuclear Palsy (PSP) is a rare, progressive neurodegenerative disorder characterized by vertical gaze palsy, pseudobulbar palsy, and motor neuron disease, caused by neurofibrillary tangles accumulation in the brainstem, basal ganglia, and cerebral cortex, leading to symmetrical akinesia, rigidity, and postural instability, with a mean survival of 5-6 years from symptom onset.
Progressive Supranuclear Palsy (PSP) is a rare neurological disorder characterized by the progressive degeneration of brain cells that regulate movement, thoughts, behavior, and eye movements. The term "supranuclear" refers to the location of the damage in the brain, specifically above the level of the "nuclei" which are clusters of nerve cells that control voluntary movements.
The most common early symptom of PSP is a loss of balance and difficulty coordinating eye movements, particularly vertical gaze. Other symptoms may include stiffness or rigidity of muscles, slowness of movement, difficulty swallowing, changes in speech and writing, and cognitive decline leading to dementia.
PSP typically affects people over the age of 60, and its progression can vary from person to person. Currently, there is no cure for PSP, and treatment is focused on managing symptoms and maintaining quality of life.
Multiple System Atrophy (MSA) is a progressive neurodegenerative disorder characterized by various combinations of motor system dysfunction, autonomic failure, and cerebellar ataxia due to the degeneration of olivopontocerebellar, striatonigral, and autonomic nervous systems.
Multiple System Atrophy (MSA) is a rare, progressive neurodegenerative disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including Parkinsonism (such as stiffness, slowness of movement, and tremors), cerebellar ataxia (lack of muscle coordination), autonomic dysfunction (problems with the autonomic nervous system which controls involuntary actions like heart rate, blood pressure, sweating, and digestion), and pyramidal signs (abnormalities in the corticospinal tracts that control voluntary movements).
The disorder is caused by the degeneration of nerve cells in various parts of the brain and spinal cord, leading to a loss of function in these areas. The exact cause of MSA is unknown, but it is thought to involve a combination of genetic and environmental factors. There is currently no cure for MSA, and treatment is focused on managing symptoms and improving quality of life.
I'm sorry for any confusion, but the term "Guadeloupe" is not a medical concept or condition, it is actually a French overseas territory located in the Caribbean region, consisting of several islands. It does not have a medical definition.
I'm sorry for any confusion, but "Guadeloupe" is not a medical term. It is actually an overseas region and department of France, located in the Caribbean Sea. Guadeloupe is an archipelago consisting of several islands, with a total land area of approximately 1,700 square kilometers (656 square miles) and a population of around 400,000 people.
If you have any questions related to medical terminology or health-related topics, I would be happy to try and help answer them for you.
I'm sorry for any confusion, but the term "Bible" is not a medical term and does not have a medical definition. It refers to the holy scripture of Christianity, consisting of the Old and New Testaments. If you have any medical questions or terms you would like defined, I'd be happy to help!
I am not aware of a medical definition for the term "Bible." The Bible is a religious text that is considered sacred in Christianity. It is composed of two main sections: the Old Testament, which contains writings recognized by Christians as Jewish scripture, and the New Testament, which contains Christian teachings, including the life, death, and resurrection of Jesus Christ.
While the Bible may be referenced in a medical context, such as in discussions about medical ethics or end-of-life care, it is not a medical term or concept and does not have a specific medical definition.
Progressive Bulbar Palsy (PBP) is a form of neurodegenerative disorder, specifically a motor neuron disease, characterized by the deterioration of the bulbar muscles that control swallowing, speaking, chewing, and sometimes breathing, due to the degeneration of lower brainstem nerve cells, often progressing to significant disability and shortened lifespan.
Progressive bulbar palsy (PBP) is a form of motor neuron disease (MND), also known as Amyotrophic Lateral Sclerosis (ALS). It is characterized by the progressive degeneration of the motor neurons in the brainstem, which control vital functions such as swallowing, speaking, chewing, and breathing.
In PBP, these symptoms gradually worsen over time, often resulting in severe disability and ultimately death due to respiratory failure. The progression of the disease can vary from person to person, but it typically advances more slowly than other forms of ALS. There is currently no cure for PBP or any other form of MND, and treatment is focused on managing symptoms and maintaining quality of life.
Boxing in a medical context is not a disorder or condition, but the term may refer to a method of applying controlled blows with the fists, used in boxing sports, which can lead to injuries such as cuts, bruises, fractures, or concussions if practiced without proper safety measures and techniques.
'Boxing' is a combat sport that involves two competitors throwing punches at each other with gloved hands within a ring. According to medical definitions, boxing can pose several potential risks and injuries to the participants, including but not limited to:
1. Cuts and bruises from punches or headbutts
2. Fractures or dislocations of bones in the hands, wrists, or face
3. Concussions or traumatic brain injuries (TBIs) from blows to the head
4. Eye injuries, including retinal detachment and cataracts
5. Internal bleeding or organ damage
6. Long-term neurological problems, such as Parkinson's disease or chronic traumatic encephalopathy (CTE)
It is important for boxers to undergo regular medical evaluations and take measures to minimize the risks associated with the sport, such as wearing protective gear and using proper technique.
Placebos are inert substances or treatments that have no therapeutic effect beyond the psychological benefits they may provide through patients' belief in their efficacy, often used as controls in clinical trials to compare with the effects of active treatments.
A placebo is a substance or treatment that has no inherent therapeutic effect. It is often used in clinical trials as a control against which the effects of a new drug or therapy can be compared. Placebos are typically made to resemble the active treatment, such as a sugar pill for a medication trial, so that participants cannot tell the difference between what they are receiving and the actual treatment.
The placebo effect refers to the phenomenon where patients experience real improvements in their symptoms or conditions even when given a placebo. This may be due to psychological factors such as belief in the effectiveness of the treatment, suggestion, or conditioning. The placebo effect is often used as a comparison group in clinical trials to help determine if the active treatment has a greater effect than no treatment at all.
Shirley Sargent
She had dystonia musculorum deformans, which made her reliant on a wheelchair from age 14.[citation needed] After writing ... People with dystonia, American writers with disabilities). ...
Torsion dystonia
... , also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions ... A combination of blepharospasm and oromandibular dystonia. Early-onset torsion dystonia: The most severe type of dystonia, it ... Oromandibular dystonia: A dystonia of the jaw, lips, and/or the tongue. It can make eating and swallowing very complicated due ... Cervical dystonia (spasmodic torticollis): A type of dystonia that affects the head, neck and spine. It can create problems by ...
X-linked dystonia parkinsonism
... "dystonia musculorum deformans". This sparked an epidemiological survey which was published in 1976. Lee et al. described a ... X-linked dystonia parkinsonism (XDP), also known as Lubag Syndrome or X-linked Dystonia of Panay, is a rare x-linked ... Lee, L V; Munoz, E L; Tan, K T; Reyes, M T (December 2001). "Sex linked recessive dystonia parkinsonism of Panay, Philippines ( ... Botulinum toxin injections have been used to relieve focal dystonia. Deep brain stimulation has shown promise in the few cases ...
Bobble-head doll syndrome
Through pneumoencephalographic studies of patients with Parkinson's, Huntington's, and dystonia musculorum deformans, it was ...
List of MeSH codes (C10)
... dystonia musculorum deformans MeSH C10.228.662.300.500 - meige syndrome MeSH C10.228.662.300.750 - torticollis MeSH C10.228. ... dystonia musculorum deformans MeSH C10.574.500.425 - gerstmann-straussler-scheinker disease MeSH C10.574.500.487 - hallervorden ... dystonia musculorum deformans MeSH C10.228.140.079.493 - hallervorden-spatz syndrome MeSH C10.228.140.079.501 - ... nocturnal paroxysmal dystonia MeSH C10.886.659.633 - rem sleep parasomnias MeSH C10.886.659.633.700 - rem sleep behavior ...
List of MeSH codes (C16)
... dystonia musculorum deformans MeSH C16.320.400.350 - Gerstmann-Sträussler-Scheinker disease MeSH C16.320.400.375 - Hallervorden ...
Dystonia
... "dystonia musculorum deformans"). These most common dystonias are typically classified as follows: The combination of ... hand dystonia, blepharospasm, oromandibular dystonia, dysphonia and musicians' dystonia. Some focal dystonias have been proven ... Generalized Focal Segmental Psychogenic Acute dystonic reaction Vegetative-vascular For example, dystonia musculorum deformans ... There are multiple types of dystonia, and many diseases and conditions may cause dystonia. Dystonia is classified by: Clinical ...
List of diseases (D)
... type Dysthymia Dystonia musculorum deformans Dystonia musculorum deformans type 1 Dystonia musculorum deformans type 2 Dystonia ... Dominant zonular cataract Donnai Barrow syndrome DOOR syndrome Dopamine beta hydroxylase deficiency DOPA-responsive dystonia ... progressive with diurnal variation Dystonia Dystrophia myotonica Dystrophic epidermolysis bullosa Dystrophinopathy (Articles ...
Dopamine-responsive dystonia
... focal dystonias, dystonia musculorum deformans and dyspeptic dystonia with hiatal hernia. Diagnosis - main typically referral ... Progressive dystonia results in clubfoot and tiptoe walking. The symptoms can spread to all four limbs around age 18, after ... Dopamine-responsive dystonia (DRD) also known as Segawa syndrome (SS), is a genetic movement disorder which usually manifests ... An MRI scan of the brain can be used to look for conditions that can mimic dopamine-responsive dystonia (for example, metal ...
Hermann Oppenheim
He coined the term "dystonia musculorum deformans" for a type of childhood torsion disease he described, a disorder that was ...
Dystonias: Practice Essentials, Classification, Common Types of Dystonias
Dystonia (from Greek, meaning altered muscle tone) refers to a syndrome of involuntary sustained or spasmodic muscle ... Dystonia musculorum deformans (torsion dystonia). Dystonia musculorum deformans, or torsion dystonia, is the term used to ... Generalized dystonia - Involves segmental crural dystonia and at least 1 other body part; dystonia musculorum deformans (or ... Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). Adv ...
X-linked dystonia-parkinsonism: MedlinePlus Genetics
X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. Explore symptoms ... Dystonia 3, torsion, X-linked. *Dystonia musculorum deformans. *Dystonia-parkinsonism, X-linked ... The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, ... Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3). J Med Invest. 2005 Nov; ...
Torticollis in Infants : Wheeless' Textbook of Orthopaedics
Shirley Sargent - Wikipedia
Paroxysmal exertion-induced dyskinesia - About the Disease - Genetic and Rare Diseases Information Center
Torsion Dystonia. Synonym: Dystonia Musculorum Deformans. Filter: All Systems. All Systems *. Musculoskeletal System ... Torsion dystonia Aggressive behavior Ataxia Chorea Irritability Specific learning disability Intellectual disability, mild ... Dystonia Paroxysmal dyskinesia Generalized non-motor (absence) seizure Hyperactive deep tendon reflexes Intellectual disability ... characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.. Read More ...
Dystonic Disorders | Profiles RNS
These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g ... Primary dystonia is more responsive than secondary dystonia to pallidal interventions: outcome after pallidotomy or pallidal ... Charness ME, Schlaug G. Brain mapping in musicians with focal task-specific dystonia. Adv Neurol. 2004; 94:231-8. ... Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. ...
Dystonias: Overview, Classification, Common Types of Dystonias
Dystonia (from Greek, meaning altered muscle tone) refers to a syndrome of involuntary sustained or spasmodic muscle ... Dystonia musculorum deformans (torsion dystonia). Dystonia musculorum deformans, or torsion dystonia, is the term used to ... Generalized dystonia - Involves segmental crural dystonia and at least 1 other body part; dystonia musculorum deformans (or ... Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). Adv ...
Genetics in dystonia<...
Dystonia musculorum deformans type 1 Medicine & Life Sciences 18% * Dopa-Responsive Dystonia Medicine & Life Sciences 17% ... While Hermann Oppenheim probably described the first cases of genetic (DYT1) dystonia in 1911, the modern history of dystonia ... Confirmed genes for isolated dystonias include TOR1A/DYT1; THAP1/DYT6; GNAL/DYT25. In the combined forms, dystonia is ... Confirmed genes for isolated dystonias include TOR1A/DYT1; THAP1/DYT6; GNAL/DYT25. In the combined forms, dystonia is ...
DisGeNET - a database of gene-disease associations
Section 80DDB of Income Tax Act (2023 Guide) - India's Leading Compliance Services Platform | Instafiling
What is the tax slab for Senior Citizens in 2023?
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families<...
Dystonia Musculorum Deformans Medicine & Life Sciences 100% * Chromosomes, Human, Pair 8 Medicine & Life Sciences 80% ... Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. L. Almasy, S. B. Bressman, D. Raymond, P. L. ... Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. In: Annals of Neurology. 1997 ; Vol. 42, No. 4. ... Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. / Almasy, L.; Bressman, S. B.; Raymond, D. et al ...
Progressive dystonia with optic atrophy in a Jewish-Iraqi family<...
Dystonia Musculorum Deformans Medicine & Life Sciences 63% * Lebers Hereditary Optic Atrophy Medicine & Life Sciences 55% ... or with LHON with dystonia were detected. Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was ... or with LHON with dystonia were detected. Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was ... or with LHON with dystonia were detected. Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was ...
Mutations in GNAL cause primary torsion dystonia<...
Dystonia musculorum deformans type 1 Medicine & Life Sciences 100% * Torsion Dystonia 6 Medicine & Life Sciences 36% ... This work was supported by research grants from the Dystonia Medical Research Foundation (T.F.), the Bachmann-Strauss Dystonia ... This work was supported by research grants from the Dystonia Medical Research Foundation (T.F.), the Bachmann-Strauss Dystonia ... title = "Mutations in GNAL cause primary torsion dystonia",. abstract = "Dystonia is a movement disorder characterized by ...
Blepharospasm. Medical search
These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g ... 1. Generalized dystonia: This is the most common form of dystonia, affecting the entire body.. 2. Focal dystonia: This type ... There are several different types of dystonia, including:. 1. Generalized dystonia: This type of dystonia affects the entire ... 2. Focal dystonia: This type of dystonia affects a specific part of the body, such as the hand or foot. It can cause abnormal ...
CLASSIFICATION OF DISEASES AND INJURIES
Idiopathic torsion dystonia Dystonia musculorum deformans or (Schwalbe-) Ziehen-Oppenheim disease 333.7 Symptomatic torsion ... Osteitis deformans and osteopathies associated with other disorders classified elsewhere 731.0 Osteitis deformans without ... Fragments of torsion dystonia Blepharospasm Orofacial dyskinesia Organic writer cramp Spasmodic torticollis Use additional E ... endarteritis deformans or obliterans senile: arteritis endarteritis 440.0 Of aorta 440.1 Of renal artery Excludes: ...
Stages of Life Medical Institute Glossary: D
Dystonia is associated with certain underlying genetic disorders, such as dystonia musculorum deformans, dopa-responsive ... Dystonia may be limited to specific muscle groups (focal dystonia), such as dystonia affecting muscles of the neck (cervical ... Referring to dystonia; sudden jerky or repetitive movements and muscle spasms due to impaired muscle tone and abnormal muscle ... The change, or mutation, that causes DYT-1 dystonia involves one of a pair of three basic chemical "building blocks" of DNA. ...
spine - International Feldenkrais Federation (IFF)
DeCS
Spinocerebellar Degenerations | Profiles RNS
Neuroleptic Malignant Syndrome | Profiles RNS
Supranuclear Palsy, Progressive | Profiles RNS
Parkinsonian Disorders | Profiles RNS
Canavan Disease | Profiles RNS
Huntington Disease | Profiles RNS
Congenital Central Hypoventilation Syndrome Drug Targets by BDE-Bio
Dystonia Musculorum Deformans , Hyperlipidemia , Hypertension , WAGR Syndrome , Gynecomastia , Fibronectin Glomerulopathy , ... Cervical Dystonia , Seasonal Mood Disorder , Tremor , Myeloid Leukemia , Aromatic L-amino Acid Decarboxylase Deficiency , Li- ... Primary Torsion Dystonia , Polycythemia Vera , Methemoglobinemia Type IV , PHARC Syndrome , Hypopituitarism , Esophageal ...
Glutamate Formiminotransferase Deficiency (Formiminotransferase Deficiency): Symptoms, Diagnosis and Treatment - Symptoma
12 Dystonia 16 Dystonia 18 Dystonia musculorum deformans Dystonia-parkinsonism, Paisan-Ruiz type Dystrophic epidermolysis ... Dystonia 10 Dystonia 16 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by ... If left untreated, neurologic crises with porphyria, polyneuritis and dystonia may occur in the acute form of the disorder and ... early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. [amp.pharm.mssm.edu] ...
MeSH Browser
Dopa-responsive dystonia3
- Dopamine-responsive dystonia (DRD), also known as dopa-responsive dystonia or as hereditary progressive dystonia with diurnal variation (HPD), is an inherited dystonia typically presenting in the first decade of life (although it may present in the second to early third decades, or even later). (medscape.com)
- Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, Ichinose H, Kira J. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. (umassmed.edu)
- 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)
Torsion3
- The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). (researchwithrutgers.com)
- Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was excluded. (tau.ac.il)
- Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref. 5), have been identified. (mssm.edu)
Onset4
- Although, as stated above, the onset of DRD is typically in the first decade of life,[3, 4] late-onset DRD was reported in a 67-year-old woman who presented with neck and trunk dystonia with diurnal fluctuations and no parkinsonian features. (medscape.com)
- Cases of adult-onset focal dystonias have also been shown to be responsive to levodopa. (medscape.com)
- Heritable childhood-onset dystonia is particularly common among Ashkenazi Jewish people. (medscape.com)
- 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)
Parkinsonism10
- This may occur in stroke or dystonia-parkinsonism syndrome and lead to painful positioning of the leg, impaired gait, and altered bone development. (medscape.com)
- X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. (medlineplus.gov)
- Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. (medlineplus.gov)
- The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body. (medlineplus.gov)
- The signs and symptoms of X-linked dystonia-parkinsonism vary widely. (medlineplus.gov)
- In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. (medlineplus.gov)
- X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. (medlineplus.gov)
- Variants (also known as mutations) in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. (medlineplus.gov)
- Several changes in the TAF1/DYT3 multiple transcript system have been identified in people with X-linked dystonia-parkinsonism. (medlineplus.gov)
- It is unclear why the effects of changes in the TAF1/DYT3 multiple transcript system appear to be limited to dystonia and parkinsonism. (medlineplus.gov)
Focal3
- Physical therapy techniques (eg, massage), slow stretching, and physical modalities (eg, ultrasonography, biofeedback) are sometimes helpful in persons with focal or regional dystonias. (medscape.com)
- These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). (umassmed.edu)
- Charness ME, Schlaug G. Brain mapping in musicians with focal task-specific dystonia. (umassmed.edu)
Disorders4
- Identification of more dystonia genes may lead to better understanding and treatment of these largely nondegenerative disorders. (medscape.com)
- 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)
- This work was supported by research grants from the Dystonia Medical Research Foundation (T.F.), the Bachmann-Strauss Dystonia and Parkinson Foundation (L.J.O.), the Lockwood Family Foundation (N.S. and L.J.O.), the National Institute of Neurological Disorders and Stroke (NS26656, S.B.B., R.S.-P. and L.J.O. (mssm.edu)
- Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (lookformedical.com)
Paroxysmal1
- Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. (nih.gov)
Hereditary1
- None of the several known mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy (LHON) or with LHON with dystonia were detected. (tau.ac.il)
Deep brain stimu2
- Other techniques include transection of the spinal accessory nerve for cervical dystonia, stereotactic thalamotomy or pallidotomy for generalized dystonia, and deep brain stimulation (DBS). (medscape.com)
- Eltahawy HA, Saint-Cyr J, Giladi N, Lang AE, Lozano AM. Primary dystonia is more responsive than secondary dystonia to pallidal interventions: outcome after pallidotomy or pallidal deep brain stimulation. (umassmed.edu)
Primary1
- Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. (umassmed.edu)
Syndrome1
- Dystonia (from Greek, meaning altered muscle tone) refers to a syndrome of involuntary sustained or spasmodic muscle contractions involving co-contraction of the agonist and the antagonist. (medscape.com)
Genes1
- ANO3/DYT24) and only 11 'DYT' genes have been unequivocally demonstrated to cause different forms of dystonia. (uni-luebeck.de)
Disorder1
- Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. (mssm.edu)
Patients4
- A study by Paracka et al indicated that patients with dystonia have an impaired body concept, particularly with regard to general health, body care, physical efficacy, sexuality, and physical appearance. (medscape.com)
- Because of the risk of significant comorbidity, surgical approaches are reserved for patients with disabling dystonia in whom other treatment modalities have been exhausted. (medscape.com)
- Patients with generalized dystonia often benefit from gait and mobility training, as well as from instruction in the use of assistive devices. (medscape.com)
- Patients bad hemi or bilateral dystonia associated with striatal, mainly putaminal, atrophy on CT and MRI, various degrees of optic atrophy, minimal corticospinal tract involvement, normal intelligence and no peripheral nervous system or systemic abnormalities. (tau.ac.il)
Severe1
- More severe cases involve dystonia that rapidly becomes generalized. (medlineplus.gov)
Muscle1
- Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. (medlineplus.gov)
Regard1
- While there was no correlation found between impaired body concept and severity of dystonia, such an association did exist with regard to self-rated depression and dystonic severity. (medscape.com)
Muscles2
- Surgical options for intractable dystonias include altering the location or length of problematic muscles, but this is rarely successful. (medscape.com)
- Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. (medlineplus.gov)
Progressive1
- The combination of progressive dystonia and optic atrophy is extremely rare and its morphological, metabolic and genetic basis is unknown. (tau.ac.il)
Type1
- Because each type of dystonia is treated in a different manner, the distinction between the various types is therapeutically important. (medscape.com)
Vary1
- The frequent abnormal posturing and twisting can be painful, and the functional impact of dystonia can vary from barely noticeable to severely disabling. (medscape.com)
Lead1
- Upper limb dystonia causes cramping and posturing of the elbows, hands, and fingers that lead to the inability to perform certain occupational tasks. (medscape.com)
Study1
- note = "Funding Information: We wish to thank all individuals with dystonia and their family members who participated in this study. (mssm.edu)
Families1
- We are indebted to the following physicians for referring families with dystonia included in this manuscript: S. Reich, J. Hammerstadt, D. Hobson, D. Truong, F. Danisi, M. Hutchinson, S. O{\textquoteright}Riordan, T. Lynch and J. Rogers. (mssm.edu)
Physical1
- Psychological counseling and participation in support groups are vital adjuncts to medical and physical approaches in the multidisciplinary management of dystonia. (medscape.com)
