This uncommon disorder affects males. It is characterized by adult onset of progressive muscle weakness and atrophy, often associated with gynae-comastia and infertility. An X-linked recessive pattern of inheritance is described (Kennedy et al. 1968) but in many cases there is no family history due to the late onset and lack of symptoms in carriers. The disease prevalence has been estimated at one in 40 000 people (Fischbeck 1997). Degeneration is seen in anterior horn cells, bulbar neurones, and dorsal root ganglia (Sobue et al. 1989); neurogenic atrophy and chronic denervation are observed.
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