Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-deafness syndrome (also known as May-White syndrome) is an extremely rare inherited neurological disorder characterized by the triad of myoclonus (sudden, involuntary muscle jerks), progressive cerebellar ataxia (impaired coordination and balance due to cerebellar dysfunction), and sensorineural hearing loss (deafness). The condition primarily affects the nervous system, particularly the cerebellum and auditory pathways. Patients typically present with progressive difficulty in coordination and gait, involuntary jerking movements that may worsen with action or intention, and progressive hearing impairment that can range from mild to profound. The syndrome was first described by May and White in 1968 in a family with multiple affected members across generations. The cerebellar ataxia tends to be progressive, leading to increasing difficulties with walking, fine motor tasks, and speech. Myoclonus may be cortical or subcortical in origin and can significantly impair daily functioning. The sensorineural deafness may present at varying ages and can progress over time. There is currently no curative treatment for this syndrome. Management is symptomatic and supportive. Myoclonus may be partially controlled with medications such as clonazepam or valproic acid. Hearing aids or cochlear implants may be considered for hearing loss. Physical therapy and occupational therapy can help manage ataxia-related functional limitations. Genetic counseling is recommended for affected families. Due to the extreme rarity of this condition, evidence for treatment approaches is limited to case reports and small case series.

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