Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.

Abstract

INTRODUCTION:

Two previously reported Norwegian patients with painful muscle cramps and giant myotonic discharges were genotyped and compared with those of members of 21 families harboring the same mutation.

METHODS:

Using primers specific for SCN4A and CLCN1, the DNA of the Norwegian family members was amplified and bidirectionally sequenced. Clinical and neurophysiological features of other families harboring the same mutation were studied.

RESULTS:

A G1306A mutation in the Nav1.4 voltage-gated sodium channel of skeletal muscle was identified. This mutation is known to cause myotonia fluctuans. No giant myotonic discharges or painful muscle cramps were found in the other G1306A families.

CONCLUSIONS:

Ephaptic transmission between neighboring muscle fibers may not only cause the unusual size of the myotonic discharges in this family, but also a more severe type of potassium-aggravated myotonia than myotonia fluctuans.

• Authors: Torberg Torbergsen, Karin Jurkat-Rott, Erik V Stålberg, Sissel Løseth, Anne Hødneø, Frank Lehmann-Horn
• Journal: Muscle & nerve (Muscle Nerve) Vol. 52 Issue 4 Pg. 680-3 (Oct 2015) ISSN: 1097-4598 [Electronic] United States
• PMID: 26080010 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 Wiley Periodicals, Inc.

Chemical References

• NAV1.4 Voltage-Gated Sodium Channel
• SCN4A protein, human

Topics

• Adult
• Electromyography
• Evoked Potentials, Motor (genetics)
• Family Health
• Female
• Humans
• Middle Aged
• Muscle Cramp (complications, genetics)
• Mutation (genetics)
• NAV1.4 Voltage-Gated Sodium Channel (genetics)