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Teaching Video NeuroImages: Muscle cramps and a raised creatine kinase

Lookup NU author(s): Dr Roger Whittaker, Professor Patrick Chinnery, Dr James Miller

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Abstract

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.


Publication metadata

Author(s): Whittaker RG, Chinnery PF, Miller JAL

Publication type: Editorial

Publication status: Published

Journal: Neurology

Year: 2014

Volume: 82

Issue: 24

Pages: E220-E221

Print publication date: 17/06/2014

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1212/WNL.0000000000000534

DOI: 10.1212/WNL.0000000000000534


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