What is Kennedys disease?
Kennedys disease or X-linked spinal and bulbar muscular atrophy, is caused by an expansion of trinucleotide (CAG) repeats in the androgen receptor gene on chromosome Xq11-12.
Affected individuals have more than 40 repeats.
Kennedys disease usually presents with a bulbar-onset lower motor syndrome associated with gynecomastia and prominent early perioral and tongue fasciculations but no dysphagia or dysarthria.
EMG shows chronic and acute denervation with NCVs showing motor and sensory conduction abnormalities in the absence of significant sensory findings on exam.
Progression is very slow and often does not limit lifespan.
