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- Title
Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.
- Authors
Ghosh, Ritwik; Dubey, Souvik; Roy, Dipayan; Mayo, Sonia; Benito-León, Julián
- Abstract
This document is a letter to the editor published in the journal Neurological Sciences. It discusses a unique case study of a teenager with congenital myasthenic syndrome and demyelinating sensorimotor neuropathy. The patient had a specific genetic mutation and experienced significant improvement in symptoms with salbutamol monotherapy. The letter emphasizes the importance of identifying the genetic basis of each syndrome for genetic counseling and appropriate therapy. The study highlights the variability of clinical manifestations in congenital myasthenic syndromes and the potential efficacy of salbutamol as a treatment option. Further research is needed to understand the effects of salbutamol on demyelinating neuropathy and its overall therapeutic efficacy in AChR deficiency-related congenital myasthenic syndromes.
- Subjects
DEMYELINATION; MUSCLE weakness; ALBUTEROL; CONGENITAL myasthenic syndromes; NEUROPATHY; BLEPHAROPTOSIS; CARPAL tunnel syndrome
- Publication
Neurological Sciences, 2024, Vol 45, Issue 7, p3555
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-024-07420-z