Abstract:
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.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Suokas K,Palmio J,Sandell S,Udd B,Hietaharju Adoi
10.1002/mus.26050subject
Has Abstractpub_date
2018-06-01 00:00:00pages
1014-1017issue
6eissn
0148-639Xissn
1097-4598journal_volume
57pub_type
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