KEGG   DISEASE: Myotonia congenita
Entry
H00705                      Disease                                

Name
Myotonia congenita
  Subgroup
Autosomal dominant myotonia congenita (Thomsen disease)
Autosomal recessive myotonia congenita (Becker disease)
  Supergrp
Non-dystrophic myotonia [DS:H01780]
Description
Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker disease). The predominant features of Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associated with a defect in the ClC-1. Whether these two entities are truly distinct disorders is under debate, and some propose that they are variants of Thomsen disease.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00705  Myotonia congenita
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C71  Myotonic disorders
     H00705  Myotonia congenita
Gene
CLCN1 [HSA:1180] [KO:K05010]
Other DBs
ICD-11: 8C71.2
ICD-10: G71.1
MeSH: D009224
OMIM: 160800 255700
Reference
  Authors
Lossin C, George AL Jr
  Title
Myotonia congenita.
  Journal
Adv Genet 63:25-55 (2008)
DOI:10.1016/S0065-2660(08)01002-X
Reference
PMID:17395134 (description, gene, drug)
  Authors
Heatwole CR, Moxley RT 3rd
  Title
The nondystrophic myotonias.
  Journal
Neurotherapeutics 4:238-51 (2007)
DOI:10.1016/j.nurt.2007.01.012

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