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

Overview

Journal J Neuromuscul Dis

Publisher Sage Publications

Specialty Neurology

Date 2023 Jan 2

PMID 36591657

Authors

J J Kramer

H T M Boon

Q H Leijten

Henk Ter Laak

L Eshuis

B Kusters

J L M van Doorn

E J Kamsteeg

B Eymard

J Doorduin

N C Voermans

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.

Kastreva K, Chamova T, Blagoeva S, Bichev S, Mihaylova V, Meyer S J Neuromuscul Dis. 2024; 11(5):1011-1020.

PMID: 38995797 PMC: 11380250. DOI: 10.3233/JND-230235.

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