Two Cases of Becker's Type Congenital Myotonia.
- Author:
In Soo MOON
1
;
Dae Soo JUNG
;
Kyu Hyun PARK
Author Information
1. Department of Neurology, College of Medicine, Pusan National University.
- Publication Type:Case Report
- MeSH:
Biopsy;
Electric Stimulation;
Humans;
Hypertrophy;
Muscle, Skeletal;
Myotonia;
Myotonia Congenita*;
Myotonic Dystrophy;
Relaxation
- From:Journal of the Korean Neurological Association
1996;14(2):605-611
- CountryRepublic of Korea
- Language:Korean
-
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.
