Facioscapulohumeral muscular dystrophy in early childhood
O. F. Brouwer, G. W. Padberg, C. Wijmenga and R. R. Frants
Department of Neurology, Leiden University, The Netherlands.
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.
