Chloride channel disorders (Q94763): Difference between revisions
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Mutações nos canais de cloreto (CLCN1) causam miotonia congênita, uma doença muscular não distrófica. Têm sido descritos os tipos autossómico dominante (doença de Thomsen) e recessivo (doença de Becker). A miotonia geralmente começa na primeira ou segunda década de vida, com os homens mais gravemente afetados do que as mulheres. Os pacientes classicamente têm uma estrutura muscular hipertrófica e experimentam uma melhora característica da miotonia com exercícios (“aquecimento”). Praticamente todos os pacientes relatam rigidez, com dores musculares e fadiga afetando a qualidade de vida | |||
| description / en | description / en | ||
Mutations in chloride channels (CLCN1) cause myotonia congenita, a non-dystrophic muscle diseases. Both autosomal dominant (Thomsen disease) and recessive (Becker disease) types have been described. Myotonia usually begins in the first or second decade of life, with men more severely affected than women. Patients classically have a hypertrophic, muscular build and experience a characteristic improvement in myotonia with exercise (“warm-up”). Virtually all patients report stiffness, with muscle pain and fatigue affecting quality of life | |||
Revision as of 10:10, 16 August 2026
Mutations in chloride channels (CLCN1) cause myotonia congenita, a non-dystrophic muscle diseases. Both autosomal dominant (Thomsen disease) and recessive (Becker disease) types have been described. Myotonia usually begins in the first or second decade of life, with men more severely affected than women. Patients classically have a hypertrophic, muscular build and experience a characteristic improvement in myotonia with exercise (“warm-up”). Virtually all patients report stiffness, with muscle pain and fatigue affecting quality of life
| Language | Label | Description | Also known as |
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| default for all languages | ID_1972433873 |
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| English | Chloride channel disorders |
Mutations in chloride channels (CLCN1) cause myotonia congenita, a non-dystrophic muscle diseases. Both autosomal dominant (Thomsen disease) and recessive (Becker disease) types have been described. Myotonia usually begins in the first or second decade of life, with men more severely affected than women. Patients classically have a hypertrophic, muscular build and experience a characteristic improvement in myotonia with exercise (“warm-up”). Virtually all patients report stiffness, with muscle pain and fatigue affecting quality of life |
