A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES.
The mechanical laws of fluid dynamics as they apply to urine transport.
A tube that transports URINE from the URINARY BLADDER to the outside of the body in both the sexes. It also has a reproductive function in the male by providing a passage for SPERM.
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE.
Pathological processes involving the URETHRA.
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Solid dosage forms, of varying weight, size, and shape, which may be molded or compressed, and which contain a medicinal substance in pure or diluted form. (Dorland, 28th ed)
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)
Printed publications usually having a format with no binding and no cover and having fewer than some set number of pages. They are often devoted to a single subject.
A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. (1/10)

With the availability of a simple molecular test that distinguishes Friedreich ataxia, the most frequent form of inherited ataxia, from other recessive ataxias, it now becomes possible to unravel the genetic heterogeneity of the latter. We have now localised two genes causing autosomal recessive spinocerebellar ataxia in two consanguineous families. In the first family, the four affected Japanese sibs had spinocerebellar ataxia associated with elevated levels of serum creatine kinase, gamma-globulin, and alpha-foetoprotein. Homozygosity over a 20 cM region allowed to demonstrate linkage at 9q33.3-34.3 with a lod score of 3.0. Genotyping two unrelated Japanese patients from first degree consanguineous parents revealed that one was homozygous for the same region but did not share the biochemical features. In the second family, an Israeli uncle and a niece were affected by an early-onset recessive ataxia and subsequently developed hearing impairment and optic atrophy. Homozygosity over a 17 cM region allowed demonstration of linkage at 6p21-23 with a lod score of 3.25. These two localisations of autosomal recessive ataxia genes represent a first step toward the identification of genetically homogenous, non-Friedreich, ataxic patients and subsequent cloning of the genes.  (+info)

Effects of alcohol on myoclonus and somatosensory evoked potentials in dyssynergia cerebellaris myoclonica. (2/10)

Three brothers with dyssynergia cerebellaris myoclonica received alcohol to study the correlation between improvement of myoclonus and alteration in somatosensory evoked potentials (SEPs). Alcohol considerably improved myoclonus for about six hours in two patients (cases 1 and 2) but had only a mild effect in one (case 3). All three patients had giant cortical SEPs. The amplitudes of median N20-P25 and P25-N35 components and tibial N30-P40 and P40-N50 components were considerably decreased after alcohol ingestion in two patients (cases 1 and 2) but unchanged or slightly decreased in one (case 3). The peak latencies of those components were not affected by alcohol. There was thus a good correlation between the suppression of myoclonus and the decrease in giant SEP amplitude.  (+info)

Auto-immune cerebellar ataxia with anti-GAD antibodies accompanied by de novo late-onset type 1 diabetes mellitus. (3/10)

 (+info)

Cerebellar atrophy in essential tremor using an automated segmentation method. (4/10)

 (+info)

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency. (5/10)

 (+info)

Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies. (6/10)

Thirteen patients with dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome) had full clinical and neurophysiological study as well as muscle biopsy. The patients had action myoclonus, generalised epileptic seizures, and mild cerebellar syndrome. The disease was inherited in an autosomal recessive pattern in five patients, and occurred as isolated cases in the remaining eight patients. The age at onset of symptoms ranged from 6 to 15 years (mean, 10.4 years). The EEG and polygraphic findings included normal background activity in most patients, spontaneous fast generalised spike-and-wave discharges, photosensitivity, no activation during slow sleep, and vertex and rolandic spikes in REM sleep. Results of muscle biopsy, performed an average of 14 years after onset of the disease, were normal and showed no mitochondrial abnormalities. These findings suggest that Ramsay Hunt syndrome is a condition with distinctive clinical and neurophysiological features and unrelated to mitochondrial encephalomyopathies.  (+info)

Importance of anticomplement immunofluorescence antibody titration for diagnosing varicella-zoster virus infection in Bell's palsy. (7/10)

Anticomplement Immunofluorescence was used for antibody titration against varicella-zoster virus (VZV) in 43 patients with peripheral facial palsy. Nine of 31 patients (29%) with Bell's palsy and eight of 12 patients (75%) with Ramsey-Hunt syndrome had anticomplement immunofluorescence antibody titres of greater than or equal to 1/10. On the other hand, none of 14 patients with herpes simplex virus (HSV) infection and 51 healthy adults showed anticomplement immunofluorescence antibody titres of greater than or equal to 1/10. The anticomplement immunofluorescence antibody titre in two patients with Ramsey-Hunt syndrome increased later and decreased sooner than the indirect immunofluorescence antibody titre, becoming undetectable at 66 and 104 days, respectively, after onset of the disease. There was no cross reaction between anti-VZV and anti-HSV antibodies in the patients who showed a positive antibody rise for VZV. As the acute stage of VZV infection is obscure in the patients with peripheral facial palsy without herpes the screening of anticomplement immunofluorescence antibody to VZV at titres greater than or equal to 1/10 may be useful for the diagnosis of VZV infection in patients with peripheral facial palsy.  (+info)

Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. (8/10)

Ramsay Hunt's progressive myoclonus and epilepsy associated with dentatorubral degeneration is a rare disorder. We report a 19 year old woman with this clinical syndrome who also has a more mildly affected brother. Neuropathological in addition to dentatorubal involvement. The evidence suggests that this is a distinctive hereditary disorder producing neuromal degeneration at several levels in the central nervous system.  (+info)

Myoclonic cerebellar dyssynergia is not a widely recognized or formally defined medical term. However, based on its individual components, it can be inferred to refer to a neurological condition characterized by:

1. Myoclonus: These are sudden, involuntary jerking movements of a muscle or group of muscles. They typically occur as a result of hyperexcitability of the neurons in the brain that control movement (motor neurons).
2. Cerebellar: The cerebellum is a part of the brain responsible for coordinating muscle movements, maintaining posture and balance, and fine-tuning motor skills. When a condition is described as "cerebellar," it implies that there is some dysfunction or abnormality in this region of the brain.
3. Dyssynergia: This term refers to a lack of coordination between muscles and muscle groups during voluntary movements. It can result from damage to the cerebellum or other parts of the nervous system involved in motor control.

Therefore, myoclonic cerebellar dyssynergia could be interpreted as a condition characterized by involuntary muscle jerks (myoclonus) and impaired coordination of voluntary movements (dyssynergia), likely due to cerebellar dysfunction. However, it is essential to consult with a medical professional for an accurate diagnosis and treatment plan if you or someone else experiences symptoms that may align with this description.

Myoclonic epilepsies are a group of epilepsy syndromes characterized by the presence of myoclonic seizures. A myoclonic seizure is a type of seizure that involves quick, involuntary muscle jerks or twitches. These seizures can affect one part of the body or multiple parts simultaneously and may vary in frequency and severity.

Myoclonic epilepsies can occur at any age but are more common in infancy, childhood, or adolescence. Some myoclonic epilepsy syndromes have a genetic basis, while others may be associated with brain injury, infection, or other medical conditions.

Some examples of myoclonic epilepsy syndromes include:

1. Juvenile Myoclonic Epilepsy (JME): This is the most common type of myoclonic epilepsy and typically begins in adolescence. It is characterized by myoclonic jerks, often occurring upon awakening or after a period of relaxation, as well as generalized tonic-clonic seizures.
2. Progressive Myoclonic Epilepsies (PME): These are rare inherited disorders that typically begin in childhood or adolescence and involve both myoclonic seizures and other types of seizures. PMEs often progress to include cognitive decline, movement disorders, and other neurological symptoms.
3. Lennox-Gastaut Syndrome (LGS): This is a severe form of epilepsy that typically begins in early childhood and involves multiple types of seizures, including myoclonic seizures. LGS can be difficult to treat and often results in cognitive impairment and developmental delays.
4. Myoclonic Astatic Epilepsy (MAE): Also known as Doose syndrome, MAE is a childhood epilepsy syndrome characterized by myoclonic seizures, atonic seizures (brief periods of muscle weakness or loss of tone), and other types of seizures. It often responds well to treatment with antiepileptic drugs.

The management of myoclonic epilepsies typically involves a combination of medication, lifestyle changes, and, in some cases, dietary modifications. The specific treatment plan will depend on the type of myoclonic epilepsy and its underlying cause.

Juvenile Myoclonic Epilepsy (JME) is a genetic condition that is characterized by the occurrence of myoclonic seizures, which are sudden, brief, shock-like jerks of muscles typically occurring in the arms and legs. These seizures usually begin in adolescence or early adulthood, between 12 to 18 years of age.

JME is a type of generalized epilepsy, meaning that it involves abnormal electrical activity throughout the brain rather than just one area. In addition to myoclonic seizures, individuals with JME may also experience absence seizures (brief periods of staring and unresponsiveness) and/or tonic-clonic seizures (generalized convulsions).

The condition is often inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the gene mutation from a parent with JME. However, not all cases are familial, and some may result from new genetic changes (mutations) that occur spontaneously.

JME is typically treated with anticonvulsant medications such as valproate or lamotrigine to control seizures. Lifestyle modifications, including avoiding sleep deprivation, stress, and excessive alcohol consumption, may also help reduce the frequency of seizures. With appropriate treatment, most individuals with JME can lead normal or near-normal lives.

Neurogenic bladder is a term used to describe bladder dysfunction due to neurological damage or disease. The condition can result in problems with bladder storage and emptying, leading to symptoms such as urinary frequency, urgency, hesitancy, incontinence, and retention.

Neurogenic bladder can occur due to various medical conditions, including spinal cord injury, multiple sclerosis, Parkinson's disease, diabetic neuropathy, and stroke. The damage to the nerves that control bladder function can result in overactivity or underactivity of the bladder muscle, leading to urinary symptoms.

Management of neurogenic bladder typically involves a multidisciplinary approach, including medications, bladder training, catheterization, and surgery in some cases. The specific treatment plan depends on the underlying cause of the condition and the severity of the symptoms.

Urodynamics is a medical test that measures the function and performance of the lower urinary tract, which includes the bladder, urethra, and sphincters. It involves the use of specialized equipment to record measurements such as bladder pressure, urine flow rate, and residual urine volume. The test can help diagnose various urinary problems, including incontinence, urinary retention, and overactive bladder.

During the test, a small catheter is inserted into the bladder through the urethra to measure bladder pressure while filling it with sterile water or saline solution. Another catheter may be placed in the rectum to record abdominal pressure. The patient is then asked to urinate, and the flow rate and any leaks are recorded.

Urodynamics can help identify the underlying cause of urinary symptoms and guide treatment decisions. It is often recommended for patients with complex or persistent urinary problems that have not responded to initial treatments.

The urethra is the tube that carries urine from the bladder out of the body. In males, it also serves as the conduit for semen during ejaculation. The male urethra is longer than the female urethra and is divided into sections: the prostatic, membranous, and spongy (or penile) urethra. The female urethra extends from the bladder to the external urethral orifice, which is located just above the vaginal opening.

Myoclonus is a medical term that describes a quick, involuntary jerking muscle spasm. These spasms can happen once or repeat in a series, and they can range from mild to severe in nature. Myoclonus can affect any muscle in the body and can be caused by several different conditions, including certain neurological disorders, injuries, or diseases. In some cases, myoclonus may occur without an identifiable cause.

There are various types of myoclonus, classified based on their underlying causes, patterns of occurrence, and associated symptoms. Some common forms include:

1. Action myoclonus: Occurs during voluntary muscle movements
2. Stimulus-sensitive myoclonus: Triggered by external or internal stimuli, such as touch, sound, or light
3. Physiological myoclonus: Normal muscle jerks that occur during sleep onset (hypnic jerks) or during sleep (nocturnal myoclonus)
4. Reflex myoclonus: Result of a reflex arc activation due to a peripheral nerve stimulation
5. Epileptic myoclonus: Part of an epilepsy syndrome, often involving the brainstem or cortex
6. Symptomatic myoclonus: Occurs as a result of an underlying medical condition, such as metabolic disorders, infections, or neurodegenerative diseases

Treatment for myoclonus depends on the specific type and underlying cause. Medications, physical therapy, or lifestyle modifications may be recommended to help manage symptoms and improve quality of life.

Urination disorders, also known as lower urinary tract symptoms (LUTS), refer to a range of clinical conditions that affect the bladder and urethra, resulting in abnormalities in the storage, transportation, and evacuation of urine. These disorders can be categorized into voiding symptoms, such as hesitancy, straining, slow stream, intermittency, and terminal dribble; and storage symptoms, including frequency, urgency, nocturia, and urge incontinence.

The causes of urination disorders are diverse, encompassing congenital abnormalities, neurological conditions, infections, inflammation, medications, and age-related changes. Common underlying pathologies include bladder overactivity, detrusor muscle instability, underactive bladder, and obstruction of the urethra.

Urination disorders can significantly impact an individual's quality of life, causing physical discomfort, sleep disturbances, emotional distress, and social isolation. Accurate diagnosis and appropriate management require a comprehensive assessment of the patient's medical history, physical examination, urinalysis, and urodynamic studies. Treatment options may include behavioral modifications, pelvic floor exercises, bladder training, medications, neuromodulation, and surgical interventions.

Urethral diseases refer to a range of conditions that affect the urethra, which is the tube that carries urine from the bladder out of the body. These diseases can cause various symptoms such as pain or discomfort during urination, difficulty in urinating, blood in urine, and abnormal discharge. Some common urethral diseases include urethritis (inflammation of the urethra), urethral stricture (narrowing of the urethra due to scar tissue or inflammation), and urethral cancer. The causes of urethral diseases can vary, including infections, injuries, congenital abnormalities, and certain medical conditions. Proper diagnosis and treatment are essential for managing urethral diseases and preventing complications.

Progressive Myoclonic Epilepsies (PME) is a group of rare, genetic disorders characterized by myoclonus (rapid, involuntary muscle jerks), tonic-clonic seizures (also known as grand mal seizures), and progressive neurological deterioration. The term "progressive" refers to the worsening of symptoms over time.

The myoclonic epilepsies are classified as progressive due to the underlying neurodegenerative process that affects the brain, leading to a decline in cognitive abilities, motor skills, and overall functioning. These disorders usually begin in childhood or adolescence and tend to worsen with age.

Examples of PMEs include:

1. Lafora disease: A genetic disorder caused by mutations in the EPM2A or NHLRC1 genes, leading to the accumulation of abnormal protein aggregates called Lafora bodies in neurons. Symptoms typically start between ages 6 and 16 and include myoclonus, seizures, and progressive neurological decline.
2. Unverricht-Lundborg disease: Also known as Baltic myoclonus, this is an autosomal recessive disorder caused by mutations in the CSTB gene. It is characterized by progressive myoclonic epilepsy, ataxia (loss of coordination), and cognitive decline. Symptoms usually begin between ages 6 and 18.
3. Neuronal Ceroid Lipofuscinoses (NCLs): A group of inherited neurodegenerative disorders characterized by the accumulation of lipopigments in neurons. Several types of NCLs can present with progressive myoclonic epilepsy, including CLN2 (late-infantile NCL), CLN3 (juvenile NCL), and CLN6 (early juvenile NCL).
4. Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF): A mitochondrial disorder caused by mutations in the MT-TK gene, leading to myoclonic epilepsy, ataxia, and ragged red fibers on muscle biopsy.
5. Dentatorubral-Pallidoluysian Atrophy (DRPLA): An autosomal dominant disorder caused by mutations in the ATN1 gene, characterized by myoclonic epilepsy, ataxia, chorea (involuntary movements), and dementia.

These are just a few examples of disorders that can present with progressive myoclonic epilepsy. It is essential to consult a neurologist or epileptologist for proper diagnosis and management.

Sleep deprivation is a condition that occurs when an individual fails to get sufficient quality sleep or the recommended amount of sleep, typically 7-9 hours for adults. This can lead to various physical and mental health issues. It can be acute, lasting for one night or a few days, or chronic, persisting over a longer period.

The consequences of sleep deprivation include:

1. Fatigue and lack of energy
2. Difficulty concentrating or remembering things
3. Mood changes, such as irritability or depression
4. Weakened immune system
5. Increased appetite and potential weight gain
6. Higher risk of accidents due to decreased reaction time
7. Health problems like high blood pressure, diabetes, and heart disease over time

Sleep deprivation can be caused by various factors, including stress, shift work, sleep disorders like insomnia or sleep apnea, poor sleep hygiene, and certain medications. It's essential to address the underlying causes of sleep deprivation to ensure proper rest and overall well-being.

A seizure is an uncontrolled, abnormal firing of neurons (brain cells) that can cause various symptoms such as convulsions, loss of consciousness, altered awareness, or changes in behavior. Seizures can be caused by a variety of factors including epilepsy, brain injury, infection, toxic substances, or genetic disorders. They can also occur without any identifiable cause, known as idiopathic seizures. Seizures are a medical emergency and require immediate attention.

In the context of medical terminology, tablets refer to pharmaceutical dosage forms that contain various active ingredients. They are often manufactured in a solid, compressed form and can be administered orally. Tablets may come in different shapes, sizes, colors, and flavors, depending on their intended use and the manufacturer's specifications.

Some tablets are designed to disintegrate or dissolve quickly in the mouth, making them easier to swallow, while others are formulated to release their active ingredients slowly over time, allowing for extended drug delivery. These types of tablets are known as sustained-release or controlled-release tablets.

Tablets may contain a single active ingredient or a combination of several ingredients, depending on the intended therapeutic effect. They are typically manufactured using a variety of excipients, such as binders, fillers, and disintegrants, which help to hold the tablet together and ensure that it breaks down properly when ingested.

Overall, tablets are a convenient and widely used dosage form for administering medications, offering patients an easy-to-use and often palatable option for receiving their prescribed treatments.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Absence epilepsy is a type of epilepsy characterized by recurrent brief episodes of "absences," or staring spells, that can last from a few seconds to several minutes. These episodes are often accompanied by subtle body movements such as lip smacking or eyelid flutters. Absence epilepsy is most commonly diagnosed in children and adolescents, and it is more common in girls than boys.

The seizures in absence epilepsy are caused by abnormal electrical activity in the brain, specifically in a part of the brain called the cortex. These abnormal electrical discharges occur in a pattern that involves both sides of the brain simultaneously. This differs from other types of epilepsy, which may involve only one side of the brain or specific areas within a single hemisphere.

Absence seizures are typically brief and do not cause confusion or disorientation after they end. However, if they occur frequently, they can interfere with learning and social development. In some cases, absence epilepsy may be associated with other types of seizures, such as generalized tonic-clonic (grand mal) seizures or myoclonic jerks.

The diagnosis of absence epilepsy is usually made based on the characteristic symptoms and the results of an electroencephalogram (EEG), which can detect the abnormal electrical activity in the brain during a seizure. Treatment typically involves medication to control the seizures, such as ethosuximide or valproic acid. In some cases, a ketogenic diet may also be recommended as an alternative treatment option.

I'm sorry for any confusion, but "pamphlets" is not a medical term. It refers to a small paper booklet or leaflet that can be used to provide information on various topics, including non-medical subjects. If you have any questions about medical terminology or concepts, I'd be happy to help with those!

Neurology is a branch of medicine that deals with the study and treatment of diseases and disorders of the nervous system, which includes the brain, spinal cord, peripheral nerves, muscles, and autonomic nervous system. Neurologists are medical doctors who specialize in this field, diagnosing and treating conditions such as stroke, Alzheimer's disease, epilepsy, Parkinson's disease, multiple sclerosis, and various types of headaches and pain disorders. They use a variety of diagnostic tests, including imaging studies like MRI and CT scans, electrophysiological tests like EEG and EMG, and laboratory tests to evaluate nerve function and identify any underlying conditions or abnormalities. Treatment options may include medication, surgery, rehabilitation, or lifestyle modifications.

It is named for James Ramsay Hunt who first described a form of progressive cerebellar dyssynergia associated with myoclonic ... Hunt JR (1914). "Dyssynergia cerebellaris progressiva: A chronic progressive form of cerebellar tremor". Brain. 37 (2): 247-268 ... dyssynergia cerebellaris progressiva, dentatorubral degeneration, or Ramsay Hunt cerebellar syndrome. Onset of symptoms usually ... Hunt JR (1921). "Dyssynergia cerebellaris myoclonica-Primary atrophy of the dentate system: A contribution to the pathology and ...
... myoclonic cerebellar dyssynergia MeSH C10.228.140.252.700.650 - olivopontocerebellar atrophies MeSH C10.228.140.252.700.700 - ... myoclonic cerebellar dyssynergia MeSH C10.228.854.787.750 - olivopontocerebellar atrophies MeSH C10.228.854.787.875 - ... myoclonic cerebellar dyssynergia MeSH C10.574.500.825.650 - olivopontocerebellar atrophies MeSH C10.574.500.825.700 - ... myoclonic MeSH C10.228.140.490.250.300 - myoclonic epilepsy, juvenile MeSH C10.228.140.490.250.650 - myoclonic epilepsies, ...
... myoclonic cerebellar dyssynergia MeSH C16.320.400.780.750 - olivopontocerebellar atrophies MeSH C16.320.400.780.875 - ...
... also called Ramsay Hunt cerebellar syndrome, is a rare form of cerebellar degeneration which involves myoclonic epilepsy, ... "NINDS Dyssynergia Cerebellaris Myoclonica Information Page". National Institute of Neurological Disorders and Stroke. 14 ...
It is named for James Ramsay Hunt who first described a form of progressive cerebellar dyssynergia associated with myoclonic ... Hunt JR (1914). "Dyssynergia cerebellaris progressiva: A chronic progressive form of cerebellar tremor". Brain. 37 (2): 247-268 ... dyssynergia cerebellaris progressiva, dentatorubral degeneration, or Ramsay Hunt cerebellar syndrome. Onset of symptoms usually ... Hunt JR (1921). "Dyssynergia cerebellaris myoclonica-Primary atrophy of the dentate system: A contribution to the pathology and ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
CEREBELLAR DYSSYNERGIA. MYOCLONIC CEREBELLAR DYSSYNERGIA. CEREBRAL ANEURYSM. INTRACRANIAL ANEURYSM. CEREBRAL ANOXIA. HYPOXIA, ...
myoclonic cerebellar dyssynergia DOID:12707 * brainstem intraparenchymal clear cell meningioma DOID:4209 ...
myoclonic cerebellar dyssynergia DOID:12707 * MERRF syndrome DOID:310 * Aicardi syndrome DOID:8461 ...
Cerebellar disorders are problems with the cerebellum, an area of the brain that controls coordination and balance. Ataxias is ... Cerebellar Hypoplasia (National Institute of Neurological Disorders and Stroke) * Dyssynergia Cerebellaris Myoclonica (National ... Myoclonic epilepsy myopathy sensory ataxia: MedlinePlus Genetics (National Library of Medicine) * Neuropathy, ataxia, and ... Acute cerebellar ataxia (Medical Encyclopedia) Also in Spanish * Multiple system atrophy - cerebellar subtype (Medical ...
Myoclonic Cerebellar Dyssynergia. *Olivopontocerebellar Atrophies. *Spinocerebellar Ataxias. publications Timeline , Most ... Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance ... A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined ...
Ramsay Hunt Cerebellar Syndrome use Myoclonic Cerebellar Dyssynergia Ramsay Hunt Dentate Syndrome use Myoclonic Cerebellar ...
Cerebellar dyssynergia. *Cerebral venous sinus thrombosis. *Cerebrohepatorenal syndrome. *Ceroid lipofuscinosis neuronal 2 late ... Severe myoclonic epilepsy in infancy. *Sialidosis type 1. *Sickle cell crisis (thrombotic) ...
O Cerebellar cortical atrophy,O Cerebellar cyst,O Cerebellar dysplasia,O Cerebellar edema,O Cerebellar glioma,O Cerebellar ... O Myoclonic absence,O Myoclonic atonic seizures,O Myoclonic spasms,O Myoclonus,O Myofiber disarray,O Myofibrillar myopathy,O ... O Dyssynergia,O Dystonia,O Dystonic gait,O Dystopic os odontoideum,O Dystrophic fingernails,O Dystrophic toenail,O Dysuria,O ... O Cerebellar hypoplasia,O Cerebellar malformation,O Cerebellar medulloblastoma,O Cerebellar vermis atrophy,O Cerebellar vermis ...
Dyssynergia cerebellaris myoclonica. Finding site. False. Muscle tissue. Inferred relationship. Some. Juvenile cerebellar ... Myoclonic seizure. Finding site. False. Muscle tissue. Inferred relationship. Some. Sialidosis. Finding site. False. Muscle ... Early myoclonic encephalopathy. Finding site. False. Muscle tissue. Inferred relationship. Some. Myoglobinuria. Finding site. ... Juvenile myoclonic epilepsy. Finding site. False. Muscle tissue. Inferred relationship. Some. Myocutaneous flap of head and ...
Myoclonic Cerebellar Dyssynergia / complications Actions. * Search in PubMed * Search in MeSH * Add to Search ... Cerebellar ataxia as atypical manifestation of the 3243A,G MELAS mutation. Petruzzella V, Zoccolella S, Amati A, Torraco A, ...
Myoclonic Cerebellar Dyssynergia 1 0 Neurodegenerative Diseases 1 0 Neuropsychological Tests 1 0 ...
Myoclonic Cerebellar Dyssynergia Preferred Concept UI. M0003859. Scope Note. A condition marked by progressive CEREBELLAR ... Cerebellar Dyssynergia Cerebelloparenchymal Disorder V Dentate Cerebellar Ataxia Dentate Cerebellar Atrophy Dentate Nucleus ... Cerebellar Diseases (1966-1969). Public MeSH Note. 2000; see CEREBELLAR DYSSYNERGIA 1991-1999; see CEREBELLAR ATAXIA 1970-1990 ... Myoclonic Cerebellar Dyssynergia Preferred Term Term UI T364821. Date11/04/1999. LexicalTag NON. ThesaurusID NLM (2000). ...
Myoclonic Cerebellar Dyssynergia Preferred Concept UI. M0003859. Scope Note. A condition marked by progressive CEREBELLAR ... Cerebellar Dyssynergia Cerebelloparenchymal Disorder V Dentate Cerebellar Ataxia Dentate Cerebellar Atrophy Dentate Nucleus ... Cerebellar Diseases (1966-1969). Public MeSH Note. 2000; see CEREBELLAR DYSSYNERGIA 1991-1999; see CEREBELLAR ATAXIA 1970-1990 ... Myoclonic Cerebellar Dyssynergia Preferred Term Term UI T364821. Date11/04/1999. LexicalTag NON. ThesaurusID NLM (2000). ...
Myoclonic Cerebellar Dyssynergia / complications * Myoclonic Cerebellar Dyssynergia / diagnosis * Myoclonus / etiology* * ... Myoclonus in a context of progressive ataxia suggests one clinical form of the Ramsay-Hunt syndrome (progressive myoclonic ... ataxia, PMA), whose most frequent causes are: coeliac disease, mitochondriopathies, some spino-cerebellar degenerations, and ...
myoclonic cerebellar dyssynergia + Nervous System Heredodegenerative Disorders + Nervous System Paraneoplastic Syndromes + ... Childhood-Onset Neurodegeneration with Cerebellar Atrophy Childhood-onset Neurodegeneration with Hypotonia, Respiratory ... NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES ...
MYOCLONIC CEREBELLAR DYSSYNERGIA; familial: consider also SPINOCEREBELLAR DEGENERATION ID#: D002524. Cerebellar Diseases ... Cerebellar Ataxia. Definition: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. ... Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively ... Cerebellar Neoplasms. Definition: Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present ...
A very rare and progressive cerebellar dyssynergia with intention tremor first localized to one extremity, convulsions, and ... myoclonic jerks, dentate neuron loss superior, and cerebellar peduncle fiber loss. ... Hunt JR: Dyssynergia cerebellaris myoclonica-Primary atrophy of the dentate system: A contribution to the pathology and ... Myoclonus, cerebellar ataxia, intention tremor, and occasional tonic-clonic seizures are the only symptoms. ...
Myoclonic nystagmus - See Nystagmus, myoclonic. *Myoclonus and ataxia - See Dyssynergia cerebellaris myoclonica ... Migraine, familial hemiplegic 1, with progressive cerebellar ataxia - See Familial hemiplegic migraine type 1 ... Myoclonic dystonia - See Myoclonus-dystonia. *Myoclonic epilepsy associated with ragged red fibers - See Myoclonic epilepsy ... Myoclonic epilepsy, juvenile, 1 - See Juvenile myoclonic epilepsy. *Myoclonic epilepsy, severe, of infancy - See Dravet ...
... cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray ... Dysarthria of the cerebellar type, characteristic postures, and a dull facies at rest with a slow-spreading smile contribute to ... Myoclonic jerks of the trunk and the extremities, particularly on intention, occur in some patients with ataxia-telangiectasia ... Dyssynergia and intention tremor of the extremities become prominent features with age. ...
Injury Myocardial Revascularization Myocardial Stunning Myocarditis Myocardium Myoclonic Cerebellar Dyssynergia Myoclonic ... Cercopithecus aethiops Cercozoa Cereals Cerebellar Ataxia Cerebellar Cortex Cerebellar Diseases Cerebellar Neoplasms Cerebellar ... Myoclonic Epilepsies, Partial Epilepsy Epilepsy, Absence Epilepsy, Benign Neonatal Epilepsy, Complex Partial Epilepsy, Frontal ... Epilepsies, Progressive Myoclonic Epilepsy, Juvenile Myoclonus Myocytes, Cardiac Myocytes, Smooth Muscle MyoD Protein ...
... cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray ... Dysarthria of the cerebellar type, characteristic postures, and a dull facies at rest with a slow-spreading smile contribute to ... Myoclonic jerks of the trunk and the extremities, particularly on intention, occur in some patients with ataxia-telangiectasia ... Dyssynergia and intention tremor of the extremities become prominent features with age. ...
... "dyssynergia cerebellaris myoclonica" ( Hunt 1921 ). Myoclonic epilepsy with ragged‑red fibers is a maternally inherited disease ... Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia ... The term "myoclonic epilepsy" seems inadequate, and the acronym MERRF could better be read as myoclonic encephalomyopathy with ... Myoclonic epilepsy with ragged-red fibers is a maternally inherited disease that is characterized by myoclonic epilepsy, ...
Progressive cerebellar ataxia Action tremor Ataxia Choreoathetosis Cognitive impairment Dementia Dysarthria Dysdiadochokinesis ... Dyssynergia Gait ataxia Hyporeflexia Impaired proprioception Involuntary movements Limb ataxia Myoclonus Nystagmus ... Synonym: Myoclonic Jerks. Nystagmus. Synonym: Involuntary, Rapid, Rhythmic Eye Movements. Ophthalmoparesis. Synonym: ...
Cerebellar involvement *Age of onset: 6-18 months * Atrophy of the cerebellar vermis and hemispheres ... Dyssynergia. *Muscle hypotonia *Sudden falls. * Movement abnormalities *Chorea. *Athetosis. *Dystonia. * Myoclonic jerks ...
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor. ORPHA:2589. Dyskinesia, Limb And Orofacial ... Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm.... ORPHA:101. ... Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor. ORPHA:308. Intellectual Developmental Disorder, X- ... Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia. OMIM:611694. Basal Ganglia Calcification, ...
Cerebellar Diseases (Cerebellar Syndrome) 12/2011. 1. Lewy Body Disease (Lewy Body Dementia) 06/2011. ... Myoclonic dystoniaIBA 04/2007. 1. CamptocormiaIBA 12/2006. 1. 4- chloro- 3,6- dimethyl- 2,2- iminodibenzoate (TO 115)IBA 06/ ... Ataxia (Dyssynergia) 06/2008. 1. Essential Tremor (Essential Tremors) 10/2007. 1. Sleep Disorders 09/2007. ...
... myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) ... generalized myoclonic-atonic, typical absences, myoclonic absences, or tonic-clonic seizures of unknown onset [Finsterer & ... Dyssynergia cerebellaris myoclonia-primary atrophy of the dentate system: a contribution to the pathology and symptomatology of ... Synonym: Myoclonic Epilepsy Associated with Ragged Red Fibers. Frances Velez-Bartolomei, MD, Chung Lee, MD, and Gregory Enns, ...
Myoclonic epilepsy with ragged red fibers. *Myoclonus cerebellar ataxia deafness. *Myoclonus-dystonia ... Dyssynergia cerebellaris myoclonica. *Dystonia 2, torsion, autosomal recessive. *DYT-PRKRA. *DYT-THAP1 ... Cerebellar ataxia and hypogonadotropic hypogonadism. *Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural ... Autosomal dominant cerebellar ataxia, deafness, and narcolepsy. *Autosomal dominant Charcot-Marie-Tooth disease type 2 with ...
59918000 Cerebellar laceration with open intracranial wound AND concussion (disorder) 59897005 Open wound of leg with tendon ... 127324008 Myoclonic disorder (disorder) 127314000 Open wound of chest wall (disorder) 127313006 Injury of bile duct (disorder) ... 236655005 Detrusor and sphincter dyssynergia (disorder) 236646007 Benign prostatic hypertrophy with outflow obstruction ( ... 414400006 Hernia of cerebellar tonsil into foramen magnum (disorder) 414397002 Hernia of anterior abdominal wall with gangrene ...
... dentate cerebellar ataxia (HSH) X CEREBELLAR ATAXIA P CEREBELLAR DYSSYNERGIA dentate ligament (NEU) ♦ligamentum denticulatua ♦ ... see myokymia myoclonic seizure X H Y PSA R RHYTHM A myouystrophia foetalis deformans X ARTHROGRYPOSIS myoepithelial tumor X ... CEREBELLAR ATAXIA i CEREBELLAR DYSSYNERGIA Ramsay Hunt syndrome (2) a HE.RI ES LOSTER X FACIAL NERVE N EAR, EXTERNAL P SYNDROME ... cerebellar (NEU) k CEREBELLAR NUCLEI nuclei corporis maaillaris (NEU) X BABHILLARY BODIES nuclei interpositi (NEU) X CEREBELLAR ...
... including myoclonic and epileptic phenotypes. Cerebellar imaging abnormalities were observed in 73-86% (cohort and in silico ... Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited. ... Case Report: We report a case of myoclonus epilepsy, mild cerebellar ataxia, and ID due to a new de-novo NUS1 missense variant ... Myoclonic jerks had polygraphic features consistent with a cortical origin, also supported by cortico-muscular coherence ...
The myoclonic jerking of the neck with synchronous contractions of the face persisted after all the antipsychotic drugs had ... In patients with dystonia of the neck and essential and cerebellar head tremor, the head showed a tendency to unstable ... dyssynergia cerebellaris myoclonica, DCM), associated with malabsorption due to adult coeliac disease, are reported. Both ... His seizures were difficult to control with anticonvulsant drugs, and somnolence and cerebellar ataxia easily occurred during ...
  • It is named for James Ramsay Hunt who first described a form of progressive cerebellar dyssynergia associated with myoclonic epilepsy in 1921. (wikipedia.org)
  • A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. (jefferson.edu)
  • Ramsay Hunt syndrome type 1 is a rare, degenerative, neurological disorder characterized by myoclonus epilepsy, intention tremor, progressive ataxia and occasionally cognitive impairment It has also been alternatively called dyssynergia cerebellaris myoclonica, dyssynergia cerebellaris progressiva, dentatorubral degeneration, or Ramsay Hunt cerebellar syndrome. (wikipedia.org)
  • Onset of symptoms usually occurs in early adulthood and is characterized by intention tremor, progressive ataxia, convulsions, and myoclonic epileptic jerks. (wikipedia.org)
  • Ramsay Hunt syndrome type 1 is caused by the impairment of a regulatory mechanism between cerebellar and brainstem nuclei and has been associated with a wide range of diseases, including Lafora disease, dentatorubropallidoluysian atrophy, and celiac disease. (wikipedia.org)
  • A very rare and progressive cerebellar dyssynergia with intention tremor first localized to one extremity, convulsions, and myoclonic epileptic jerks. (mhmedical.com)
  • CASE PRESENTATION: We present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. (bvsalud.org)
  • At first neurological visit at the age of 46 years old, she presented brief myoclonic jerks predominating in the upper limbs and neck, mild at rest and elicited by action, posture and tactile stimulus. (bvsalud.org)
  • Ramsay Hunt syndrome type 1 is caused by the impairment of a regulatory mechanism between cerebellar and brainstem nuclei and has been associated with a wide range of diseases, including Lafora disease, dentatorubropallidoluysian atrophy, and celiac disease. (wikipedia.org)
  • Dyssynergia and intention tremor of the extremities become prominent features with age. (medscape.com)
  • Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (nih.gov)
  • Treatment of cerebellar disorders depends on the cause. (medlineplus.gov)
  • RESULTS: EOA associated gene mutations cause a spectrum of disorders, including myoclonic and epileptic phenotypes. (bvsalud.org)
  • Slow initiation and performance of all voluntary activity and muscular hypotonia are characteristic and are also manifestations of cerebellar symptomatology. (medscape.com)