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A Case of Central Core Disease with Distal Lower Limb Weakness - Case Report -
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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 no sensory symptoms and no family history of genetic disease. The results of motor and sensory nerve conduction tests were normal in both legs. Needle electromyography showed denervation and polyphasic potential with short duration in both lower limbs. The serum creatine kinase level was normal. Considering the test results, the patient was initially suspicious for distal myopathy. However, as uniform central cores were observed in type 1 muscle fibers in muscle biopsy, the patient was ultimately diagnosed with central core disease. Central core disease is normally known as an autosomal dominant congenital myopathy which results in prominent proximal limb weakness. Therefore, this case with distal lower limb weakness presented an atypical feature of central core disease.
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 no sensory symptoms and no family history of genetic disease. The results of motor and sensory nerve conduction tests were normal in both legs. Needle electromyography showed denervation and polyphasic potential with short duration in both lower limbs. The serum creatine kinase level was normal. Considering the test results, the patient was initially suspicious for distal myopathy. However, as uniform central cores were observed in type 1 muscle fibers in muscle biopsy, the patient was ultimately diagnosed with central core disease. Central core disease is normally known as an autosomal dominant congenital myopathy which results in prominent proximal limb weakness. Therefore, this case with distal lower limb weakness presented an atypical feature of central core disease.
참고문헌 (14)
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