Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.

Autor: Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Laulund LW; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Illum N; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Dunkhase-Heinl U; Department of Pediatrics, Hospital of Southern Jutland, Aabenraa, Denmark., Schrøder HD; Department of Pathology, Odense University Hospital, Odense, Denmark., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. Electronic address: christina.fagerberg@rsyd.dk.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2023 Mar; Vol. 66 (3), pp. 104706. Date of Electronic Publication: 2023 Jan 18.
DOI: 10.1016/j.ejmg.2023.104706
Abstrakt: Disease causing variants in the Ryanodine receptor 1 (RYR1) gene are a common cause for congenital myopathy and for malignant hyperthermia susceptibility. We report a 17 year old boy with congenital muscle weakness progressing to a myasthenia like myopathy with muscle weakness, fatigability, ptosis, and ophthalmoplegia. Muscle biopsy showed predominance and atrophy of type 1 fibers. Whole-exome trio sequencing revealed three variants in the RYR1-gene in the patient: c.6721C > T,p.(Arg2241*) and c.2122G > A,p.(Asp708Asn) in cis position, and the c.325C > T,p.(Arg109Trp) variant in trans. Treatment with pyridostigmine improved symptoms. This case supports that a myasthenia like phenotype is part of the phenotypic spectrum of RYR1 related disorders, and that treatment with pyridostigmine can be beneficial for patients with this phenotype.
Competing Interests: Declaration of competing interest There exist no conflicts of interest.
(Copyright © 2023. Published by Elsevier Masson SAS.)
Databáze: MEDLINE
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