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Article

Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia.

Neuromuscular disorders : NMD - 1 Dec 2019

Rudnik-Schöneborn Sabine, Huemer Martina, Weis Joachim, Sauer Elizabeta, Meng Gerhard

Abstract excerpt

We report a patient with early onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) who was not diagnosed until 48 years of age. She developed progressive facial diplegia from the age of 4-5 years followed by limb muscle weakness. Motor nerve conduction was normal, myopathic changes were seen electromyographically. Creatine kinase activity was mildly increased at the beginning. Muscle biopsy at 8 years...

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Identifiers

PMID: 31708336
DOI: 10.1016/j.nmd.2019.09.015

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