비골근 위축증 가족의 신경 전도 검사 소견

Abstract

The purpose of this study was to provide a guideline for early diagnosis comprehensive rehabilitative management including genetic counseling by means of clinical examination. medical and electrodiagnostic record of peroneal muscular atrophy patients and their family reviewed. In addition, nerve conduction study were performed in cooperative family members of patients.

The result of clinical and electrodiagnostic findings was compatible with peroneal muscular atrophy in 4 families out of 8 families: 5 members of 21 family members.

As a conclusion, we strongly recommended the electrodiagnosic evaluation as a diagnostic tool for the members of the patient's family with or without clinical evidence of peroneal muscular atrophy, since it is found to be useful in the early detection of subclinical peroneal muscular atrophy, and hence provide a proper guideline for genetic counseling of the patient's family