A 29‐Year‐Old Man with Difficulty Climbing the Stairs

Abstract

A 29-year-old man described progressive difficulty climbing stairs over a decade. He did not report any other neurological symptoms including upper limb, bulbar, facial or respiratory muscle weakness. His perinatal history and development were unremarkable, although he had never been particularly good at sport. There was no family history of cardiac or neuromuscular disease. Neurological examination revealed an exaggerated lumbar lordosis and myopathic gait. He had moderate symmetrical, predominantly proximal, limb weakness, which was more marked in the lower than the upper limbs and normal tendon reflexes. There was no sensory loss, myotonia or muscle hypertrophy. Serum creatine kinase level was elevated at 1096 IU/L (upper limit of normal: 250 IU/L). Electromyogram was myopathic. Electrocardiogram and echocardiography were normal.