Sceletal muscle chloride channelopathies
DOI:
https://doi.org/10.67667/NEU.v24i2.138Keywords:
CLCN1-gene, myotonia, myotonic phenomenonAbstract
Congenital myotonia is caused by mutations in the CLCN1 gene, encoding the skeletal muscle chloride channel ClC-1. (7q35). Myotonia congenita may be inherited as either an autosomal-dominant (Thomsen Disease) or recessive trait (recessive generalized myotonia or Becker myotonia). Myotonia congenita is usually evident during early childhood. This disorder is clinically presented by a myotonic phenomenon – abnormal delay in muscle relaxation following voluntary forceful contraction. Affected individuals describe muscular stiffness upon initiating movement. The stiffness remits with several repetitions of the same movement, giving rise to the so-called warmup phenomenon. Some patients have significant transient weakness after rest, more pronounced in the upper extremities. In most cases generalized myotonia is accompanied by moderate to pronounced muscular hypertrophy that presumably develops because of chronically increased muscle activity.
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Copyright (c) 2023 Stanislava Blagoeva, Teodora Chamova, Ivailo Tournev
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