Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease

Abstract

Objective: Infantile FSHD represent about 4% of all FSHD. In this early form, muscular disease progresses faster and may be associated with deafness, retinal vasculopathy and, rarely, intellectual disability and epilepsy. Methods: We have reviewed the medical data from 5 neuropaediatric teams concerning 16 patients suffering from infantile FSHD (9 girls/7 boys). In 2017 they are between 7 and 30 years old. All of them presented the clinical criteria defined by Brouwer in 1994: (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. The diagnosis was confirmed in all cases by molecular biology showing a deletion on D4Z4 locus, with 1–4 repeats. Results: The first signs (facial diplegia with: leakage of milk by sucking, lagophthalmia during sleep, inability to smile) were noted between birth and 4 years (mean: 1.5 years). A diagnostic delay between 2 and 10 years (mean: 5.7 years) was observed. The evolution was marked between 2 and 16 years by an extension of the muscular weakness to the scapular and then pelvic girdle. A deficit in the foot-extensors was observed in seven cases. The installation of a major lordosis was responsible for the loss of walking between 12 and 18 years for six teenagers. Deafness was present in nine patients, always before 4 years. Retinal vasculopathy involved one boy. Two children had a severe intellectual disability with epileptic encephalopathy. A congenital heart disease was present in four cases. In 6/16 cases the mutation was inherited. Conclusion: The diagnosis of the infantile FSHD is often delayed even in familial cases. The evolution is rapid and severe, marked by the possible loss of walking in adolescence and the possibility of a multi-systemic disease.