Myotonia congenita, recessive (Q89056): Difference between revisions
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A miotonia congênita autossômica recessiva (doença de Becker) é causada por mutação no gene que codifica o canal 1 de cloreto do músculo esquelético (CLCN1). É um transtorno do músculo esquelético não distrófico caracterizado por rigidez muscular e uma incapacidade do músculo para relaxar após a contração voluntária. A maioria dos pacientes tem início dos sintomas nas pernas, que mais tarde progride para os braços, pescoço e músculos faciais. Muitos pacientes apresentam hipertrofia acentuada dos músculos dos membros inferiores. Alguns pacientes apresentam fraqueza muscular transitória. | |||
| description / en | description / en | ||
Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal muscle disorder characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness. | |||
Revision as of 15:30, 15 August 2026
Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal muscle disorder characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness.
| Language | Label | Description | Also known as |
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| default for all languages | ID_439347096 |
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| English | Myotonia congenita, recessive |
Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal muscle disorder characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness. |
