Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey
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Published on: June 15, 2018
Kimmo Suokas1, Johanna Palmio2, Satu Sandell3
1Department of Neurology, Tampere University Hospital, P.O. Box 2000 FI-33521, Tampere, Finland.
Introduction:
The p.A1156T mutation alters the function of the voltage-gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy without overt myotonia or periodic paralysis but with myalgic pain.
Methods:
A postal survey was conducted to assess the prevalence and characteristics of pain and related symptoms in individuals with the p.A1156T mutation. A specific questionnaire, intensity and interference subscales of the Brief Pain Inventory, pain drawing, Widespread Pain Index, quality of life (RAND-36), and the Beck Depression Inventory were completed.
Results:
Twenty of 24 patients replied. Current pain was reported by 16 respondents; the other 4 had experienced pain previously. Most commonly, pain was widespread and exercise-induced. The severity and the impact of pain on daily life were considerable, although varied.
Discussion:
This sodium channelopathy is another entity in the growing number of diseases causing widespread myalgic pain that resembles the pain seen in fibromyalgia syndrome. Muscle Nerve 57: 1014-1017, 2018.

