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Lookup NU author(s): Professor Roger Whittaker,
Professor Patrick Chinnery,
Dr James Miller
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A 40-year-old man presented with a 25-year history of cramps affecting the abdomen, neck, and limbs. Examination revealed fasciculation in the forearms, abdomen, and chin (video on the Neurology (R) Web site at Neurology.org). There was shoulder girdle wasting with bilateral mastectomy scars (figure, B and C). Creatine kinase (CK) was 1,650 U/L (normal < 310 U/L). Electrodiagnostic studies revealed sensory neuronopathy with neurogenic changes on EMG. Genetic testing demonstrated excess CAG repeats in the androgen receptor gene, confirming Kennedy disease.(1) This X-linked disorder is the most common adult-onset spinal muscular atrophy. CK can be markedly raised.(2) Gynecomastia results from androgen insufficiency and can precede the development of neurologic symptoms.
Author(s): Whittaker RG, Chinnery PF, Miller JAL
Publication type: Editorial
Publication status: Published
Print publication date: 17/06/2014
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins