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  Vol. 51 No. 4, April 1994 TABLE OF CONTENTS
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Facioscapulohumeral Muscular Dystrophy in Early Childhood

Oebele F. Brouwer, MD, PhD; George W. Padberg, MD, PhD; Ciska Wijmenga, PhD; Rune R. Frants, PhD

Arch Neurol. 1994;51(4):387-394.


Abstract

Objective
To determine the occurrence and the clinical and genetic variability of early-onset facioscapulohumeral muscular dystrophy (FSHD).

Design
Patients were derived from a large series of patients who participated in a genetic study of FSHD in the Netherlands.

Patients
A group of 96 patients of 17 families with autosomal dominant FSHD, nine sporadic cases of FSHD, and 35 children at risk for having the FSHD gene was searched for the presence of early-onset cases. Criteria for early-onset FSHD were (1) signs or symptoms of facial weakness before the age of 5 years and (2) signs or symptoms of shoulder girdle weakness before the age of 10 years.

Results
Six early-onset cases (four familial, two sporadic) were identified. Four of five cases showed an abnormal DNA fragment with the probe p13E-11, which has been shown to detect DNA rearrangements in FSHD patients. The clinical symptoms in these early-onset cases showed great variability with respect to rate of progression of muscle weakness, the association of hearing loss and retinopathy, and the expression of the disorder in parents and siblings.

Conclusions
Infantile FSHD has been suggested to be a separate form of the disease, often accompanied by sensorineural hearing loss and retinal telangiectasia. Our findings, as well as the fact that both hearing loss and retinal vasculopathy have been recently shown to be part of FSHD, suggest that early-onset FSHD is not a separate entity, but part of a wide clinical spectrum of FSHD.



Author Affiliations

From the Department of Neurology (Drs Brouwer, Padberg, and Wijmenga), and the MGC-Department of Human Genetics (Drs Wijmenga and Frants), Leiden (the Netherlands) University.



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RELATED LETTER

Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy
Veeral S. Sheth and Michael J. Shapiro
Arch Ophthalmol. 2008;126(5):745-746.
EXTRACT | FULL TEXT  


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy
Sheth and Shapiro
Arch Ophthalmol 2008;126:745-746.
FULL TEXT  

Facioscapulohumeral Dystrophy
Pandya et al.
ptjournal 2008;88:105-113.
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Facioscapulohumeral Muscular Dystrophy Can Be a Cause of Isolated Childhood Cognitive Dysfunction
Hobson-Webb
J Child Neurol 2006;21:252-253.
ABSTRACT  

Tongue atrophy in facioscapulohumeral muscular dystrophy
Yamanaka et al.
Neurology 2001;57:733-735.
ABSTRACT | FULL TEXT  





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