A Case of Central Core Disease with Distal Lower Limb Weakness - Case Report -

J Korean Assoc EMG Electrodiagn Med 2008;10(2):181-185.
Published online December 1, 2008.

Abstract

We report a 13-year-old boy with central core disease who had prominent distal lower limb weakness.Three months ago, his lower limb weakness had progressed slowly, then he couldn’t toe stand. He had nosensory symptoms and no family history of genetic disease. The results of motor and sensory nerve conductiontests were normal in both legs. Needle electromyography showed denervation and polyphasicpotential with short duration in both lower limbs. The serum creatine kinase level was normal. Consideringthe test results, the patient was initially suspicious for distal myopathy. However, as uniform centralcores were observed in type 1 muscle fibers in muscle biopsy, the patient was ultimately diagnosed withcentral core disease. Central core disease is normally known as an autosomal dominant congenital myopathywhich results in prominent proximal limb weakness. Therefore, this case with distal lower limb weaknesspresented an atypical feature of central core disease.

Key Words: Central core disease, Congenital myopathy, Distal myopathy