Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features
| Autor: | Partha S. Ghosh, Devin E Prior |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty Genotype Congenital myasthenia Single Center Neuromuscular junction 03 medical and health sciences 0302 clinical medicine medicine Humans Respiratory system Child Exome sequencing Retrospective Studies Myasthenic Syndromes Congenital business.industry Infant Newborn Infant Congenital myasthenic syndrome medicine.disease Phenotype 030104 developmental biology medicine.anatomical_structure Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 36:610-617 |
| ISSN: | 1708-8283 0883-0738 |
| Popis: | Background: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomatic therapies. Methods: We identified 18 patients with congenital myasthenic syndrome from a pediatric neuromuscular center over a decade. Through a retrospective chart review, we characterize demographic profile, clinical features, genetic variants, treatment, and follow-up of these patients. Results: Patients had the following genetic subtypes: CHRNE (6), CHAT (2), MUSK (2), DOK7 (2), COLQ (1), RAPSN (1), PREPL (1), GFPT1 (1), CHRBB1 (1), and CHRNA1 (1). The phenotype varied based on the genetic variants, though most patients have generalized fatigable weakness affecting ocular, bulbar, and extremity muscles. There was a significant delay in the diagnosis of this condition from the onset of symptoms. Although most patients improved with pyridostigmine, some subtypes showed worsening with pyridostigmine and others benefited from albuterol, ephedrine, or 3,4-diaminopyridine treatment. Conclusion: Increasing recognition of this rare syndrome will lead to early diagnosis and prompt treatment. Prompt utilization of genetic testing will identify novel variants and the expanding phenotype of this condition. |
| Databáze: | OpenAIRE |
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