Administration of testosterone results in reversible deterioration in Kennedy's disease

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Abstract
A now 67-year-old male first presented in 1995 with a 10 year history of difficulty walking. Examination revealed bilateral gynaecomastia and testicular atrophy. Cognitive examination was within normal limits. Examination of cranial nerves revealed fasciculation of the mentalis muscle and fasciculation and mild atrophy of the tongue. In the upper limbs, there was slight wasting of the abductor policis brevis, and absent brachioradialis and triceps reflexes bilaterally, while examination of the lower limbs revealed weakness of the illiopsoas and gastrocnemius muscles bilaterally (grade 4+ out of 5, and 4 out of 5, respectively), absent reflexes throughout and mild sensory loss in a stocking distribution. Nerve conduction studies were consistent with a predominantly motor axonal neuropathy, and electromyography showed widespread denervation. The clinical diagnosis of SBMA was confirmed by genetic testing showing an expanded CAG repeat in the AR (fig 1).

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