Becker형 선천성 근긴장증 1례

A Case of Becker's Type Congenital Myotonia

저자들은 최근 25세 여자 환자로 뚜렷한 가족력이 없으면서 3-4세경부터 발생한 근육의 강직현상과 현저한 근비대소견이 있는 환자를 경험하였다. 임상적으로 타진성 근긴장증을 보이고 전기생리적 검사로 새끼손가락 외향근에서의 운동과 반복신경자극에서 복합근육활동전위의 감소를 보였으며, 이두박근의 근생검 소견상 용적이 증가된 근섬유와 중심핵화현상이 관찰되었다. 환자는 mexiletin 경구 투여후 근육의 강직현상이 다소 호전되었다. 이에 문헌고찰과 함께 Becker형 선천성 근긴장증 1례를 보고하는 바이다.

Congenital myotonia is a hereditary disorder of the skeletal muscle. The most characteristic features of the disease are myotonia and variable muscular hypertrophy. Molecular biologic investigations have revealed that mutations in the gene of the human skeletal muscle chloride ion channel protein are a cause of the disease. The Becker's type congenial myotonia is clinically similar to the autosomal dominantly inherited congenital myotonia (Thomsen's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers. reflected in clinical myotonia. In general, Becker's type congenital myotonia is more severe than Thomsen's disease in muscular hypertrophy and weakness. The authors recently experienced a 25-year-old female patient who has no family-related disease history and who has conspicuous muscular hypertrophy and the stiffness with muscles which occurred from the age of 3 or 4. Clinically she showed the authors a percussion myotonia. On electrophysiological study, exercise and repetitive stimulation of the abductor digiti quinti muscle disclosed a decline in the compound muscle action potential. Biopsy of biceps muscle revealed enlargement of muscle fibers with marked nuclear internalization. After the oral taking the Mexiletine, the patient showed a favorable turn a little with her stiffness of muscles. So we authors are reporting one case of Becker's type congenital myotonia with review of literatures.