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


Rudnik-Schöneborn, Sabine; Huemer, Martina; Weis, Joachim; Sauer, Elizabeta; Meng, Gerhard (2019). Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia. Neuromuscular Disorders : NMD, 29(12):973-976.

Abstract

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 suggested a neurogenic pattern, a second biopsy at age 30 was chronic myopathic with fibre calibre variation. The patient lost the ability to walk at age 44. When last seen she had total facial diplegia, no active movements in her limbs, mild kyphoscoliosis and a rigid thoracic spine. Molecular studies revealed a shortened D4Z4 fragment confirming the diagnosis FSHD1. Her family history was unremarkable, suggesting a de novo mutation. This report is to illustrate the evolving phenotype of early onset FSHD1 with predominating facial palsy.

Abstract

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 suggested a neurogenic pattern, a second biopsy at age 30 was chronic myopathic with fibre calibre variation. The patient lost the ability to walk at age 44. When last seen she had total facial diplegia, no active movements in her limbs, mild kyphoscoliosis and a rigid thoracic spine. Molecular studies revealed a shortened D4Z4 fragment confirming the diagnosis FSHD1. Her family history was unremarkable, suggesting a de novo mutation. This report is to illustrate the evolving phenotype of early onset FSHD1 with predominating facial palsy.

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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
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:December 2019
Deposited On:16 Jan 2020 10:10
Last Modified:16 Jan 2020 10:10
Publisher:Elsevier
ISSN:0960-8966
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/j.nmd.2019.09.015
PubMed ID:31708336

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