1. Neonatal dystrophia myotonica. Electrophysiologic studies.
- Author
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Swift TR, Ignacio OJ, and Dyken PR
- Subjects
- Abnormalities, Multiple genetics, Adolescent, Adult, Arthrogryposis genetics, Child, Chromosome Aberrations, Chromosome Disorders, Electromyography, Enteral Nutrition, Face abnormalities, Female, Humans, Infant, Newborn, Lip abnormalities, Male, Muscle Tonus, Myotonic Dystrophy therapy, Neural Conduction, Pedigree, Infant, Newborn, Diseases genetics, Myotonic Dystrophy genetics
- 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.
- Published
- 1975
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