Teaching video neuroimages: muscle cramps and a raised creatine kinase.
case_report · Level V
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- Record sourced from PubMed, PMID 24960836.
- Also identified by DOI 10.1212/WNL.0000000000000534 and PMC identifier 4113459.
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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 <i>Neurology</i>® 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.<sup>1</sup> This X-linked disorder is the most common adult-onset spinal muscular atrophy. CK can be markedly raised.<sup>2</sup> Gynecomastia results from androgen insufficiency and can precede the development of neurologic symptoms.
Medical subject headings
- Muscle Cramp