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KMID : 0359719960140020605
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Journal of the Korean Neurological Association
1996 Volume.14 No. 2 p.605 ~ p.611
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Two Cases of Becker's Type Congenital Myotonia
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Abstract
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Congenital myotonia is a benign familial disorder, main problem is muscle stiffness, delayed relaxation of skeletal muscles after voluntary contraction of 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.
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