Abstract

Kennedy's disease, or X-linked spinal and bulbar muscular atrophy, is an inherited X-linked degenerative disorder. We report a case of a 44-year-old gentleman who is presented with progressive proximal myopathy, wasting and fasciculation of tongue, masseter, face, pharyngeal to bilateral hand tremor and gynaecomastia. The neurophysiological studies are consistent with chronic axonal neuropathy and suggestive of Kennedy Disease.

Key words: Kennedy's disease, CAG repeat disorder, proximal myopathy