title: Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.
abstract: Kennedy's disease or spinal and bulbar muscular atrophy (SBMA) is a multi-system disorder affecting adult males, which is characterized by weakness of limbs and faciobulbar muscles primarily due to loss of lower motor neurons. Besides the obvious motor neuronopathy, additional findings in a substantial proportion of SBMA patients include sensory neuropathy and signs of androgen deficiency, such as poor sexual functioning and reduced fertility with gynaecomastia. The presence of elevated glucose, liver pathology or dyslipidaemia is less consistent features. We review the striking clinical, electrodiagnostic and muscle pathology features characteristic of Kennedy's disease, which has some peculiar and diagnostically useful features not observed in many other neuromuscular disorders.
authors.affiliation: Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Kiinamyllynkatu 4-8, 20520, Turku, Finland. mejoke@utu.fi.
authors.forename: Manu E
authors.initials: ME
authors.lastname: Jokela
authors.affiliation: Neuromuscular Research Center, Tampere University and Hospital, Tampere, Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D000728:Androgens / Q000378:metabolism; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009460:Neurologic Examination
chemical_list: D000728:Androgens
keywords: EMG; Muscle biopsy; Spinal and bulbar muscular atrophy