Electrophysiological and radiological diagnosis of hereditary motor and sensory polyneuropathy

Abstract

Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a member of the inherited neuropathy family with specific clinical and genetical manifestations. More than twenty genes have been linked to HMSN, and the number might increase. Regarding diagnosis, a healthcare provider should be suspicious if the patient is young with a family history. Integrative diagnosis, which includes electrophysiological, radiological, and genetic screening, is of great value to exclude metabolic, nutritive-toxic, infectious, and inflammatory or autoimmunological causes and to reach the exact subtype of hereditary neuropathy. Nowadays, next-generation sequencing-based analysis is becoming a routine diagnostic tool for inherited neuropathy, but if this facility is not available, electrophysiological and radiological diagnoses are the best diagnostic tools to be used. Differentiation between hereditary neuropathy and diabetic neuropathy is essential for primary care physicians to have the right plan.

Keywords: Hereditary motor and sensory polyneuropathy; nerve conduction velocity; pulmonary function test; radiological findings.