Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11 - Sorbonne Université
Article Dans Une Revue Journal of Neuromuscular Diseases Année : 2023

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

Résumé

We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes of respiratory failure during respiratory infections. This and other cases were reported as isolated dystrophy of the diaphragmatic musculature. In adulthood, whole exome sequencing revealed two heterozygous pathogenic variants in the RAPSN gene. This led to the revision of the diagnosis to rapsyn CMS11 (OMIM:616326, MONDO:0014588). EMG, muscle ultrasound and the revision of muscle biopsies taken in childhood support this diagnosis. After the revision of the diagnosis, treatment with pyridostigmine was started. This resulted in a reduction of fatigability and an improvement in functional abilities and quality of life.
Fichier principal
Vignette du fichier
jnd_2023_10-2_jnd-10-2-jnd221542_jnd-10-jnd221542.pdf (817.99 Ko) Télécharger le fichier
Origine Publication financée par une institution
Licence

Dates et versions

hal-04542689 , version 1 (11-04-2024)

Licence

Identifiants

Citer

J.J. Kramer, H.T.M. Boon, Q.H. Leijten, Henk ter Laak, L. Eshuis, et al.. Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11. Journal of Neuromuscular Diseases, 2023, 10 (2), pp.271-277. ⟨10.3233/JND-221542⟩. ⟨hal-04542689⟩
21 Consultations
6 Téléchargements

Altmetric

Partager

More