발달 지연을 주소로 내원한 선천성 근긴장성 디스트로피 환아 2례
Two Cases of Congenital Myotonic Dystrophy Who Complained Delayed Development
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Congenital myotonic dystrophy is usually inherited from an asymptomatic mother. Clinical features of congenital myotonic dystrophy in newborn period include hypotonia, respiratory distress and poor sucking power. If congenital myotonic dystrophy patients can survive beyond infant period, above symptoms are gradually improved. However, other symptoms such as facial weakness, mental retardation, arrhythmia, and cataract gradually progress. So if a clinician does not examine a patient carefully, the patient can be misdiagnosed as mental retardation only and cannot be prevented from complications such as sudden death, cardiac conduction disorder, diabetes mellitus and cataract. Here we report two children with congenital myotonic dystrophy who were diagnosed as delayed development and their asymptomatic mothers.
Abstract
Congenital myotonic dystrophy is usually inherited from an asymptomatic mother. Clinical features of congenital myotonic dystrophy in newborn period include hypotonia, respiratory distress and poor sucking power. If congenital myotonic dystrophy patients can survive beyond infant period, above symptoms are gradually improved. However, other symptoms such as facial weakness, mental retardation, arrhythmia, and cataract gradually progress. So if a clinician does not examine a patient carefully, the patient can be misdiagnosed as mental retardation only and cannot be prevented from complications such as sudden death, cardiac conduction disorder, diabetes mellitus and cataract. Here we report two children with congenital myotonic dystrophy who were diagnosed as delayed development and their asymptomatic mothers.
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