Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
| Autor: | Kramer, J.J., Boon, H.T.M., Leijten, Q.H., Laak, H.J. ter, Eshuis, L., Kusters, B., Doorn, J.L.M., Kamsteeg, E.J., Eymard, B., Doorduin, J., Voermans, N.C. |
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| Rok vydání: | 2023 |
| Předmět: |
All institutes and research themes of the Radboud University Medical Center
Neurology Other Research Radboud Institute for Health Sciences [Radboudumc 0] Neurology (clinical) Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] |
| Zdroj: | Journal of Neuromuscular Diseases, 10, 2, pp. 271-277 Journal of Neuromuscular Diseases, 10, 271-277 |
| ISSN: | 2214-3599 |
| Popis: | Contains fulltext : 291135.pdf (Publisher’s version ) (Open Access) 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: | OpenAIRE |
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