Recognizing Symptoms of Congenital Myasthenic Syndromes in Children: A Guide for Paediatricians.

Lynn B OrriënsDilan EkerHilde M H BraakmanPeter J F M MerkusCorrie E Erasmus

Published in: Acta paediatrica (Oslo, Norway : 1992) (2023)

Early referral to diagnose CMS is crucial to enable timely initiation of treatment. Heightened attention to a combination of symptoms related to muscle weakness, rather than individual symptoms, should support paediatricians in flagging these neuromuscular disorders. Medical history taking should be tailored to parents' perceptions, asking questions about recognizable symptoms of muscle weakness.

Keyphrases

healthcare
primary care
skeletal muscle
sleep quality
young adults
smoking cessation