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Muscle Nerve. 2017 Jun;55(6):922-927. doi: 10.1002/mus.25453. Epub 2017 Feb 12.

Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

Author information

1
Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, 14642, USA.

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.

KEYWORDS:

Charcot-Marie-Tooth disease; episodic weakness; inherited neuropathy; mitochondrial ATPase; periodic paralysis

PMID:
27783406
DOI:
10.1002/mus.25453
[Indexed for MEDLINE]

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