Muscle cramps and a raised creatine kinase. Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

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Muscle cramps and a raised creatine kinase. Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology

Vignette 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 (Video1a). There was shoulder girdle wasting with bilateral mastectomy scars (Figure 1b,c). Creatine kinase (CK) was 1650 u/l (normal <310 u/l). Electrodiagnostic studies revealed sensory neuronopathy with neurogenic changes on electromyography. Whittaker et al. © 2013 American Academy of Neurology

Imaging Whittaker et al. © 2013 American Academy of Neurology

Diagnosis Whittaker et al. Genetic testing demonstrated excess CAG repeats in the androgen receptor gene, confirming Kennedy’s disease. This X-linked disorder is the commonest adult-onset spinal muscular atrophy. CK can be markedly raised. Gynaecomastia results from androgen insufficiency and can precede the development of neurological symptoms. © 2013 American Academy of Neurology