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

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Details zur Publikation

Autorinnen und Autoren: Giarrana ML, Joset P, Sticht H, Robb S, Steindl K, Rauch A, Klein A
Zeitschrift: Muscle & Nerve
Verlag: Wiley-Blackwell
Jahr der Veröffentlichung: 2015
Band: 52
Heftnummer: 4
Seitenbereich: 668-73
ISSN: 0148-639X


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.Clinical course and electrophysiological, pathological, and genetic findings were assessed.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.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.

FAU-Autorinnen und Autoren / FAU-Herausgeberinnen und Herausgeber

Sticht, Heinrich Prof. Dr.
Professur für Bioinformatik

Einrichtungen weiterer Autorinnen und Autoren

Great Ormond Street Hospital (GOSH)
Universitäts-Kinderspital Zürich
Universität Zürich (UZH)


Giarrana, M.L., Joset, P., Sticht, H., Robb, S., Steindl, K., Rauch, A., & Klein, A. (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4), 668-73. https://dx.doi.org/10.1002/mus.24687

Giarrana, Miriam L., et al. "A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations." Muscle & Nerve 52.4 (2015): 668-73.


Zuletzt aktualisiert 2018-05-10 um 02:30