MYOTONIA CONGENITA (THOMSEN'S DISEASE) Early Diagnosis in Infancy

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Abstract
A family with myotonia congenita (Thomsen''s disease) is reported in which the father and his 2 offspring are affected. The course was characterized by the early onset of clinical manifestations in both the father and 2 children. In 1 child, a clinical and electrical diagnosis of the disease was made as early as 2 wk of age. Early manifestations were breathing difficulty and eye closure myotonia. The importance of early recognition of the disorder is emphasized.

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