Key result
The T1313M mutation in the SCN4A gene is a possible cause of persistent distal hand weakness in patients with Paramyotonia Congenita, with symptoms improving after acetazolamide chloride treatment.
Why the study?
Paramyotonia congenita typically presents with transient muscle stiffness, while interictal persistent weakness is uncommon.
Does acetazolamide chloride improve clinical symptoms in patients with Paramyotonia Congenita carrying the T1313M mutation?
Case Report
Does acetazolamide chloride improve clinical symptoms in patients with Paramyotonia Congenita carrying the T1313M mutation?
The T1313M mutation in the SCN4A gene is a possible cause of persistent distal hand weakness in Paramyotonia Congenita, and symptoms may improve with acetazolamide.
May warrant SCN4A testing for persistent weakness; leaves open acetazolamide efficacy in paramyotonia congenita.
BACKGROUND: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. CASE REPORT: We report a family with a history of PC accompanied by persistent hand muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. The PC causative mutation T1313M in the SCN4A gene was prevalent in the family. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. CONCLUSIONS: PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.
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Taminato et al. (2020) conducted a case report in Paramyotonia Congenita. T1313M mutation in the SCN4A gene was evaluated on Persistent distal hand weakness and muscle atrophy. The T1313M mutation in the SCN4A gene is a possible cause of persistent distal hand weakness in patients with Paramyotonia Congenita, with symptoms improving after acetazolamide chloride treatment.
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