Calf Hypertrophy and Proximal Weakness in a 6-year-old Boy Mimicking Myopathy: A Case Report
Keywords:
Calf hypertrophy, Proximal weakness, CMT1A, PMP22, PolyneuropathyAbstract
We present a boy of 6 years old with proximal weakness and calf hypertrophy. Although clinically we thought of the case as muscular dystrophy, later through electrodiagnostic testing we found demyelinating sensory-motor polyneuropathy which was consistent with Charcot-Marie-Tooth (CMT1A) disease. Genetic analysis revealed duplication at 17p11.2 containing the PMP22 gene. We reviewed the literature about the association between CMT1A and calf hypertrophy. There are few reports in certain families of CMT1A where calf hypertrophy is a prominent feature rather than atrophy. The pathophysiological mechanism of hypertrophy is still unknown. Some authors mentioned that it is due to hypertrophy of type 1 muscle fiber. This study adds that hereditary neuropathy should be considered in a differential diagnosis of calf hypertrophy and limb weakness with or without atrophy. The utility of nerve conduction study and electromyography should be emphasized for these patients to reach a diagnosis.
Journal of Current and Advance Medical Research, January 2025;12(1):44-47
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Copyright (c) 2025 Bithi Debnath, Narayan Chandra Saha, Nazmul Haque, Md. Enayet Hussain, Rajib Nayan Chowdhury
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