Severe phenotype in infantile facioscapulohumeral muscular dystrophy

L Klinge, M Eagle, ID Haggerty, CE Roberts… - Neuromuscular …, 2006 - Elsevier
While much is known about the clinical course of adult FSHD, the third most common
inherited muscular dystrophy, data on the “infantile phenotype” and especially on the
progression of the disease in children are limited. We have followed a cohort of 7 patients
with infantile FSHD for 9–25 years and here report the clinical and genetic findings in this
group. Infantile FSHD is relatively rare, amounting to 4% of all of our FSHD patients. Despite
some variability in the progression, infantile FSHD has a more consistent phenotype than …