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myotonia congenita, autosomal dominant

Disease Summary
Associated Targets (1)


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Uniprot Description A non-dystrophic skeletal muscle disorder characterized 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. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).
Mondo Term and Equivalent IDs
MONDO:0008055:  myotonia congenita, autosomal dominant
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found