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June 1975

Neonatal Dystrophia Myotonica: Electrophysiologic Studies

Author Affiliations

From the departments of neurology (Drs. Swift, Ignacio, and Dyken) and pediatrics (Dr. Dyken), the Section of Pediatric Neurology (Drs. Ignacio and Dyken), and Electromyography Laboratory (Dr. Swift), Eugene Talmadge Memorial Hospital, Medical College of Georgia, Augusta.

Am J Dis Child. 1975;129(6):734-737. doi:10.1001/archpedi.1975.02120430066018

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.

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