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A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations


Giarrana, Miriam L; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.

Abstract

INTRODUCTION: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling.
METHODS: Clinical course and electrophysiological, pathological, and genetic findings were assessed.
RESULTS: We describe the case of a boy with prenatal onset and severe respiratory symptoms with a persisting need for ventilation. The patient had severe bulbar symptoms, marked axial weakness causing a "dropped head," and some facial and proximal weakness. Ophthalmoparesis developed during the first year of life. Salbutamol led to improvement, 3,4-diaminopyridine had a modest effect, but pyridostigmine produced deterioration. Two novel mutations in MUSK were found by whole exome sequencing.
CONCLUSIONS: We expand the phenotype of congenital myasthenic syndromes with MUSK mutations, describing a more severe clinical course with prenatal onset. Predominant bulbar and respiratory weakness with facial and axial weakness and ophthalmoparesis are diagnostic clues.

Abstract

INTRODUCTION: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling.
METHODS: Clinical course and electrophysiological, pathological, and genetic findings were assessed.
RESULTS: We describe the case of a boy with prenatal onset and severe respiratory symptoms with a persisting need for ventilation. The patient had severe bulbar symptoms, marked axial weakness causing a "dropped head," and some facial and proximal weakness. Ophthalmoparesis developed during the first year of life. Salbutamol led to improvement, 3,4-diaminopyridine had a modest effect, but pyridostigmine produced deterioration. Two novel mutations in MUSK were found by whole exome sequencing.
CONCLUSIONS: We expand the phenotype of congenital myasthenic syndromes with MUSK mutations, describing a more severe clinical course with prenatal onset. Predominant bulbar and respiratory weakness with facial and axial weakness and ophthalmoparesis are diagnostic clues.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Physiology
Health Sciences > Neurology (clinical)
Life Sciences > Cellular and Molecular Neuroscience
Health Sciences > Physiology (medical)
Uncontrolled Keywords:Physiology (medical), Physiology, Cellular and Molecular Neuroscience, Clinical Neurology
Language:English
Date:October 2015
Deposited On:29 Dec 2015 17:05
Last Modified:26 Mar 2020 00:40
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-639X
OA Status:Green
Publisher DOI:https://doi.org/10.1002/mus.24687
PubMed ID:25900532

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