Isolated myopathic involvement of the diaphragmatic musculature in a neonate

Bergen, Barry J.; Sangalang, Virgilio; Aterman, K.

doi:10.1002/ana.410010414

Cited by 6 publications

(2 citation statements)

References 10 publications

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“…All these children had passed away in the neonatal period. One of these reports was by Bergen et al [ 2 ]. They described a girl who, shortly after birth, experienced respiratory distress and generalized hypotonia.…”

Section: Discussionmentioning

confidence: 99%

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

Kramer

Boon

Leijten

et al. 2023

JND

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We here present the case of a patient with a congenital myasthenic syndrome (CMS) due 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.

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Section: Discussionmentioning

confidence: 99%

“…Eventually, he was diagnosed with diaphragm muscular dystrophy. The authors referred to five similar cases of diaphragm muscular dystrophy, all of which had died in infancy [2][3][4][5].…”

Section: Introductionmentioning

confidence: 99%