A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.

ABSTRACT:

Background

Charcot-Marie-Tooth disease (CMT) is a group of single-gene hereditary diseases of peripheral nerve with high clinical variability and genetic heterogeneity. The typical clinical manifestations include progressive muscle weakness and muscle atrophy in the distal extremities, accompanied by disappearance of tendon reflexes and distal sensory disturbances. CMT2A2 (OMIM: 609260) is caused by the mutation of MFN2 (OMIM: 608507), is the most common type of axonal pattern. Although a small number of patients with X-linked CMT1 (CMT1X) present with central nervous system involvement, including reversible white matter lesions, it is rarely in CMT2A2.

Case presentation

A 3-year and 5-month-old girl had experienced motor lag, muscle tension, and abnormal gait for over a yea

SUBMITTER: Xu X 

PROVIDER: S-EPMC10768097 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature