Ramsay Hunt syndrome type 1 is a rare, degenerative, neurological disorder characterized by

myoclonus Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus (myo "muscle", clonic "jerk") describes a medical sign and, generally, is ...

epilepsy,

intention tremor Intention tremor is a dyskinetic disorder characterized by a broad, coarse, and low frequency (below 5 Hz) tremor evident during deliberate and visually-guided movement (hence the name intention tremor). An intention tremor is usually perpendi ...

, progressive

ataxia Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of ...

and occasionally cognitive impairment It has also been alternatively called , ''dyssynergia cerebellaris progressiva'', dentatorubral degeneration, or Ramsay Hunt cerebellar syndrome.

Presentation

Onset of symptoms usually occurs in early adulthood and is characterized by intention tremor, progressive

, convulsions, and myoclonic epileptic jerks. Tremors usually affect one extremity, primarily the upper limb, and eventually involve the entire voluntary motor system. Overall, the lower extremity is usually disturbed less often than the upper extremity. Additional features of the syndrome include: an unsteady gait, seizures, muscular hypotonia, reduced muscular coordination,

asthenia Weakness is a symptom of a number of different conditions. The causes are many and can be divided into conditions that have true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, i ...

adiadochokinesia Dysdiadochokinesia (DDK) is the medical term for an impaired ability to perform rapid, alternating movements (i.e., diadochokinesia). Complete inability is called adiadochokinesia. The term is from Greek ''δυς'' ''dys'' "bad", ''διάδοχο� ...

and errors with estimating range, direction, and force of voluntary movements. Mental deterioration can, rarely, occur.

Causes

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 Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in Myoclonus#Epilepsy forms, myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by t ...

, dentatorubropallidoluysian atrophy, and

celiac disease Coeliac disease (British English) or celiac disease (American English) is a long-term autoimmune disorder, primarily affecting the small intestine, where individuals develop intolerance to gluten, present in foods such as wheat, rye and barl ...

Diagnosis

The Diagnosis of Ramsay Hunt Syndrome Type 1 is different to individual people with the syndrome. Most common diagnosis is a physical exam on the individual, Usually by doctors taking a sample of fluid from one of the rash blisters in your ear for testing and to diagnose the syndrome.

Treatment

Treatment of Ramsay Hunt Syndrome Type 1 is specific to individual symptoms. Myoclonus and seizures may be treated with drugs like

valproate Valproate (VPA) and its valproic acid, sodium valproate, and valproate semisodium forms are medications primarily used to treat epilepsy and bipolar disorder and prevent migraine headaches. They are useful for the prevention of seizures in those ...

. Some have described this condition as difficult to characterize.

Eponym

It is named for

James Ramsay Hunt James Ramsay Hunt (1872 – July 22, 1937) was an American neurologist. Early life and education James Ramsay Hunt was born in Philadelphia in 1872. He received his M.D. degree from the University of Pennsylvania School of Medicine in 1893. He t ...

who first described a form of progressive cerebellar dyssynergia associated with myoclonic epilepsy in 1921.

References

External links

* {{CNS diseases of the nervous system Neurological disorders Rare syndromes