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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 early0onset 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.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. |
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