An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness

Intern Med. 2021 Nov 20. doi: 10.2169/internalmedicine.6487-20. Online ahead of print.ABSTRACTCharcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a novel heterozygous MFN2 pathogenic variant (c.740 G>C, p.R247P) and severe CMT phenotypes, including progressive muscle weakness, optic atrophy, urinary inconsistency, and restrictive pulmonary dysfunction with eventration of the diaphragm that developed over her 60-year disease course. Our case expands the clinico-genetic features of MFN2-related CMT and highlights the need to evaluate infrequent manifestations during long-term care of CMT patients.PMID:34803088 | DOI:10.2169/internalmedicine.6487-20

Source: Internal Medicine - November 22, 2021 Category: Internal Medicine Authors: Yasuyoshi Kimura Akira Nishikawa Akihiro Hashiguchi Masaki Etoh Akiko Yoshimura Kanako Asai Noriko Miyashita Hiroshi Takashima Hisae Sumi Takashi Naka Source Type: research