Thomsen syndrome

Thomsen's syndrome (also myotonia congenita or ataxia muscularis) is an autosomal dominantly inherited syndrome of myotonia, manifested already after birth by difficult sucking and stiff facial expressions. After muscle contraction, there is no relaxation, the musculature is significantly hypertrophic (due to repeated muscle contractions) with increased irritability. The sick are not capable of faster movements. On the whole, however, the disease does not cause significant problems for them.

A rarer, autosomal recessively inherited form of congenital myopathy is called Becker disease (OMIM: 255700 ; it is not a form of Becker muscular dystrophy, but a different clinical entity) and is caused by a mutation in the CLCN1 gene.

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