myotonia/hipersensitivitas

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Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfeld syndrome): case report and literature review.

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Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital disorder, which results from disturbance in a perlecan protein synthesis. Most affected are the muscles, acting in generalized myotonia, leading to joint contractures, weird-looking mask-like face appearance, and causing

[Treatment of patients with different forms of myotonia with diphenin and novocainamide].

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Patients with different forms of myotonia were treated by 2 preparations: novocainamide and Diphenine (diphenylhydantoin). Patients with Thomsen's myotonia (9 cases) and with atrophic myotonia (7 cases) were treated by novocainamide with a daily dosage of 0.75-1.5 gm during 3 weeks. A decrease of

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

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Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but mexiletine is expensive, has limited availability and several side effects. There is therefore a need to identify other pharmacological compounds that can alleviate myotonia in non-dystrophic myotonias. Like

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.

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In rare diseases it is difficult to achieve high-quality evidence of treatment efficacy because of small cohorts and clinical heterogeneity. With emerging treatments for rare diseases, innovative trial designs are needed.To investigate the effectiveness of

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

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Laryngospasm is a rare but potentially life-threatening occurrence in infants and usually has infective, allergic, metabolic, or anatomic causes. Underlying genetic conditions are rarely considered. Mutations in SCN4A encoding the voltage-gated sodium channel NaV1.4 have been implicated in a wide

Normal platelet aggregation in myotonic dystrophy.

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In 18 patients with myotonic dystrophy, spontaneous aggregation and platelet aggregation induced by thrombin, adenosine diphosphate and epinephrine were compared with normal aggregation patterns. In 17 of the 18 patients the results were not significantly different from normal. In 1 patient

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