This case report documents the rare co-occurrence of nemaline rod myopathy and Charcot-Marie-Tooth disease in a single patient.
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Rare dual pathology should not alter CMT or myopathy care; leaves open possible shared mechanisms for targeted genetic study.
A 10-year-old girl studied with genetic, clinical, electrodiagnostic, and histopathologic methods showed evidence for both nemaline rod myopathy and Charcot-Marie-Tooth disease. Although Charcot-Marie-Tooth disease was documented in the family, no other members were found to have clinical and electrodiagnostic evidence for a primary myopathy.
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Moris J. Danon (1980) studied this question.
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