Myotonia Congenita, Autosomal Recessive (MCAR)

Alias:
Becker Disease
Myotonia Congenita, Recessive
Congenital Myotonia, Autosomal Recessive Form
Obscure African Cardiomyopathy
Becker Generalized Myotonia
Becker Muscular Dystrophy
Myotonia, Generalized
Generalized Myotonia
Myotonia Congenita
Mcar
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myotonia Congenita, Autosomal Recessive, also known as becker disease, is related to myotonia congenita, autosomal dominant and myotonia, and has symptoms including muscular stiffness, myalgia and lid lag. An important gene associated with Myotonia Congenita, Autosomal Recessive is CLCN1 (Chloride Voltage-Gated Channel 1). The drugs Ramipril and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and brain, and related phenotypes are muscle weakness and myotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
22
156

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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