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Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy—a postal survey
Author(s) -
Suokas Kimmo,
Palmio Johanna,
Sandell Satu,
Udd Bjarne,
Hietaharju Aki
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26050
Subject(s) - channelopathy , medicine , fibromyalgia , myotonia , erythromelalgia , physical therapy , periodic paralysis , anesthesia , paralysis , psychiatry , myotonic dystrophy
: 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