Ramsay Hunt syndrome type 1 is a rare, degenerative, neurological disorder characterized by myoclonus epilepsy, intention tremor, progressive ataxia and occasionally cognitive impairment [1]
It has also been alternatively called dyssynergia cerebellaris myoclonica,[2][3] dyssynergia cerebellaris progressiva,[4] dentatorubral degeneration, or Ramsay Hunt cerebellar syndrome.
Presentation
Onset of symptoms usually occurs in early adulthood and is characterized by intention tremor, progressive ataxia, convulsions, and myoclonic epileptic jerks.[1] Tremors usually affect one extremity, primarily the upper limb, and eventually involve the entire voluntary motor system.[1] Overall, the lower extremity is usually disturbed less often than the upper extremity.[1] Additional features of the syndrome include: an unsteady gait, seizures, muscular hypotonia, reduced muscular coordination, asthenia, adiadochokinesia and errors with estimating range, direction, and force of voluntary movements.[1] Mental deterioration can, rarely, occur.[1]
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, dentatorubropallidoluysian atrophy, and celiac disease.[5][6]
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.[1] Myoclonus and seizures may be treated with drugs like valproate.[1] Some have described this condition as difficult to characterize.[7]
Eponym
It is named for James Ramsay Hunt[8] who first described a form of progressive cerebellar dyssynergia associated with myoclonic epilepsy in 1921.[1]