Author/Authors :
Özel, Lütfi Atatürk Üniversitesi - Tıp Fakültesi - Nöroloji ABD, Turkey , Demir, Recep Atatürk Üniversitesi - Tıp Fakültesi - Nöroloji ABD, Turkey , Özdemir, Gökhan Atatürk Üniversitesi - Tıp Fakültesi - Nöroloji ABD, Turkey , Ertekin, Ayfer Atatürk Üniversitesi - Tıp Fakültesi - Nöroloji ABD, Turkey , Ulvi, Hızır Atatürk Üniversitesi - Tıp Fakültesi - Nöroloji ABD, Turkey
Abstract :
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. Since it is not easy to differentiate these two forms, differentiation is mainly carried out using the heritage according to the family tree method. A 21-year-old-male was admitted to our outpatient clinic with a complaint of dropping objects from his hand. On physical examination the patient had an athletic appearance with generalized stiffness of the muscles. No atrophy or 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. There was no intermarriage between his father and mother. Myotonic releases were detected in electromyography (EMG). Since the same disease was present in his father and brother, a family tree of the patient was established, and accordingly the disease was diagnosed as Thomsen s type Myotonia Congenita. The patient was enrolled into a physiotherapy program. The aim of this study was to point out that although the short-term disability phenomenon is usually seen in Becker s type Myotonia Congenita, it can rarely be observed in Thomsen s type as well.
NaturalLanguageKeyword :
Myotonia Congenita , Thomsen s type , short , term disability
