Titre : | Pregnancy-associated respiratory failure in muscle specific kinase congenital myasthenic syndrome |
Revue : | Muscle & Nerve, 59, 4 |
Auteurs : | Wadwekar V, Auteur ; Wadwekar V ; Pillai RR ; Sesh S ; Nair SS ; Nair M |
Type de document : | Article |
Année de publication : | 04/2019 |
Pages : | p. E24 |
Langues: | Anglais |
Résumé : |
Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders of neuromuscular transmission.
Congenital myasthenic syndrome related to mutations of the gene coding for muscle-specific tyrosine kinase (MuSK) is extremely rare, with fewer than 20 cases reported worldwide. Muscle-specific tyrosine kinase CMS can cause generalized fatigable weakness and has a variable age of presentation. Pregnancy-related issues in MuSK-CMS have not been explored. Here, we describe a patient with CMS caused by a MuSK mutation who developed respiratory failure during the first trimester of pregnancy. Her older sister with a similar illness died during the fourth month of pregnancy. |
Pubmed / DOI : | DOI : 10.1002/mus.26410 / Pubmed : 30635923 |
N° Profil MNM : | 2019011 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/30635923 |