발달 지연을 주소로 내원한 선천성 근긴장성 디스트로피 환아 2례 = Two Cases of Congenital Myotonic Dystrophy Who Complained Delayed Development

다국어 초록 (Multilingual 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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