Neonatal Dystrophia Myotonica: Electrophysiologic Studies

Thomas R. Swift, Olegario J. Ignacio, Paul R. Dyken

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)734-737
Number of pages4
JournalAmerican Journal of Diseases of Children
Volume129
Issue number6
DOIs
StatePublished - Jun 1975

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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