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

Autor: Kramer JJ; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Boon HTM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Leijten QH; Rijnstate Hospital, Arnhem, The Netherlands., Ter Laak H; Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands., Eshuis L; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Kusters B; Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands., van Doorn JLM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Eymard B; Institute de Myologie, Paris, France., Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
Jazyk: angličtina
Zdroj: Journal of neuromuscular diseases [J Neuromuscul Dis] 2023; Vol. 10 (2), pp. 271-277.
DOI: 10.3233/JND-221542
Abstrakt: 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.
Databáze: MEDLINE
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