The neonatal diagnosis of neuro-muscular diseases is difficult. From a series of 11 neonates presenting with such diseases, ante and postnatal semiology has been studied. During pregnancy, hydramnios (7/11) and decreased active movements were the most frequent symptoms. Delivery was often dystotic (7/11). After birth, respiratory distress, lack of motility, hypotonia, and muscle and tendon retraction were the clinical manifestations (10/11). Knowledge of this semiology should facilitate the ante and postnatal screening of affected patients. The diagnosis depends on family history and, overall, on the results of muscle biopsy.
Download full-text PDF |
Source |
---|
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!