Thomsen disease

An uncommon inherited condition, alternatively known as myotonia congenita, characterized by the onset of myotonia (a phenomenon where muscles contract but struggle to relax) in early childhood, persisting throughout one’s lifetime. Typically, the myotonia is of a mild nature. Those affected might encounter stiffness and cramps while at rest, yet these symptoms generally alleviate during physical activity. The disorder is inherited following an autosomal dominant pattern.


 


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