Two Cases of Becker's Type Congenital Myotonia

J Korean Neurol Assoc > Volume 14(2); 1996 > Article

Journal of the Korean Neurological Association 1996;14(2): 605-611.

Becker형 선천성 근긴장증 2예

문인수, 정대수, 박규현

부산대학교 의과대학 신경과학교실

Two Cases of Becker's Type Congenital Myotonia

In Soo Moon, M.D., Dae Soo Jung, D.M., Kyu Hyun Park, M.D.

Department of Neurology, College of Medicine, Pusan National University

Abstract

Congenital myotonia is a benign familial disorder, main problem is muscle stiffness, delayed relaxation of skeletal muscles after voluntary contraction or following mechanical or electrical stimulation. Although weakness is always present with progression of myotonic dystrophy, many patients with myotonia congenita never develop weakness. In the autosomal dominantly inherited form of congenital myotonia (Thomsen's disease) , symptoms revolve around myotonia but weakness is not present. However, in the autosomal recessive (Becker's) type congenital myotonia, mild weakness and marked muscle hypertrophy is common. We report two cases of sporadic developing Becker's type congenital myotonia with electrophysiologic and muscle biopsy findings and review of literatures.