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 language||English (US)|
|Number of pages||4|
|Journal||American Journal of Diseases of Children|
|State||Published - Jun 1975|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health