[Perinatal symptomatology of severe neuromuscular diseases. Apropos of 11 cases].
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.
D001706:Biopsy; D004420:Dystocia / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000209:etiology; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis*; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013902:Radiography, Thoracic; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology; D013997:Time Factors
Sémiologie périnatale des maladies neuro-musculaires sévères. A propos de 11 cas.