Bulbospinal Muscular Atrophy Kennedys Disease

Bulbospinal muscular atrophy (BSMA), a slowly progressive disease of adult males, is an x-linked recessive disorder caused by trinucleotide repeat expansion. The androgen receptor (AR) gene on chromosome 22 contains trinucleotide CAG repeats that normally expand from 14 to 32 but, in BSMA, from 40 to 62. The disease presents with progressive bulbar palsy, weakness and atrophy of the limb muscles, gynecomastia, and testicular atrophy.

The histology is confined to the bulbar and spinal motor neurons. Remnant motor neurons display nuclear

Muscular Atrophy Histological

FIGURE 5.21

Infantile spinal muscular atrophy. A 6-year-old boy suffered from generalized muscle wasting that had begun in early infancy. By 3 years of age, he was unable to sit, walk, or talk. Family history was negative. The medulla shows neuronal losses, neuronal atrophy, and neuronophagia in the hypoglos-sus nucleus (Cresyl violet stain).

FIGURE 5.21

Infantile spinal muscular atrophy. A 6-year-old boy suffered from generalized muscle wasting that had begun in early infancy. By 3 years of age, he was unable to sit, walk, or talk. Family history was negative. The medulla shows neuronal losses, neuronal atrophy, and neuronophagia in the hypoglos-sus nucleus (Cresyl violet stain).

inclusions that immunoreact for ubiquitin, AR protein, and abnormally expanded polyglutamine tracts.

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