Improving The Management of Non-dystrophic Myotonia to Benefit Care Delivery and Improve Patient Outcomes

Non-dystrophic myotonias (NDM) are rare muscle disorders caused by mutations in skeletal voltage-gated channels leading to delayed relaxation after voluntary contraction. They subdivided into sodium channelopathies, when the mutation is SCN4A gene, and chloride CLCN1 gene. Symptoms, which may differ according subtype, exacerbating factors, over disease course, can include stiffness, pain, fatigue, hypertrophy, myalgia, weakness. The severity of NDM symptoms varies widely, from being barely noticeable causing considerable disability that impacts health-related quality life. People with remain undiagnosed for several years, potentially due a lack awareness among many healthcare professionals. symptomatic treatment predominantly involves channel blockers, such as mexiletine. Randomised, placebo-controlled trials have shown mexiletine reduce stiffness improve Patient clinician surveys, well national guidelines, place this medication one first choices pharmaceutical myotonia. Other lamotrigine, carbamazepine, acetazolamide, ranolazine, flecainide, though clinical evidence limited, all used on an off-label basis. Herein, challenges recognising treating myotonia people reviewed, along strategies increase its potential treatment.