Özet:

Myotonia congenita is a muscle ion channel disorder of non-progressive type, characterized by myotonia and muscle hypertrophy. It has autosomal dominant (Thomsen's type) and recessive (Becker's type) forms. As it is not easy to discriminate these two forms, it is mainly performed by the heritage according to the family tree method. A 21-year-old-male has admitted our polyclinics with the complaint of dropping the objects from his hand. Physical examination of the patient exhibited general stiffness of the whole body muscles. No atrophy of muscle weakness was present. Deep tendon reflexes were normal. Action myotonia and percussion myotonia were determined. Similar complaints were present in his father and brother. No intermarriage was present between his mother and father. Myotonic releases were detected in electromyography (EMG). Since the same disease was present in his father and brother, the family tree of the patient was formed, and accordingly the disease was diagnosed as Thomsen's type Myotonia Congenita. The patient is taken into a physiotherapy program. We aimed to point out that although the short-term disability phenomenon usually offers the presence of Becker's type Myotonia Congenita, it may rarely be observed in Thomsen's type as well.

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