Episodic weakness and Charcot–marie–tooth disease due to a mitochondrial MT‐ATP6 mutation. Issue 6 (12th February 2017)

• Record Type: Journal Article
• Authors: Panosyan, Francis B.; Tawil, Rabi; Herrmann, David N.
• Is Part Of: Muscle & nerve. Volume 55:Issue 6(2017)
• Page Start: 922
• Page End: 927
• Publication Date: 2017-02-12
• Subjects: Charcot–Marie–Tooth disease -- episodic weakness -- inherited neuropathy -- mitochondrial ATPase -- periodic paralysis; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.25453
• Languages: English
• ISSNs: 0148-639X

Abstract

ABSTRACT: Introduction: Episodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization. Methods: We report 2 family members with chronic, slowly progressive, distal axonal neuropathy, or Charcot–Marie–Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis. Results: Next generation sequencing (NGS) identified a mitochondrial MT‐ATP6 mutation m.9185T>C (p.Leu220Pro) in both patients, consistent with a previous report of an association with this phenotype. The episodic weakness has been responsive to acetazolamide therapy for a few decades. By contrast, the underlying axonal neuropathy is quite progressive despite treatment with acetazolamide. Conclusions: Mitochondrial DNA mutations should be considered in patients with a history of episodic weakness and axonal inherited neuropathy (CMT2). The episodic weakness is responsive to acetazolamide therapy, and electrophysiological testing for periodic paralysis with a long exercise protocol is negative in these cases. Muscle Nerve 55 : 922–927, 2017