Neonatal Dystrophia Myotonica
- 1 June 1975
- journal article
- case report
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 129 (6) , 734-737
- https://doi.org/10.1001/archpedi.1975.02120430066018
Abstract
The diagnosis of dystrophia myotonica was established in a boy 3 hours old, and confirmed by family study and electromyography (EMG) at 5 days. Clinical features included hypotonia, facial diparesis, "tented" upper lip, and arthrogryposis of both knees. Percussion myotonia was elicited. The EMG disclosed characteristic bursts of electrical activity that waxed and waned on muscle percussion or needle movement. The EMG may be valuable in supporting the diagnosis of dystrophia myotonica in neonates suspected of having the disease.Keywords
This publication has 4 references indexed in Scilit:
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- Congenital dystrophia myotonicaNeurology, 1973
- Motor and Sensory Conduction in Infancy and Childhood: ReappraisalDevelopmental Medicine and Child Neurology, 1972
- Dystrophia Myotonica in ChildhoodBMJ, 1960