Ventilatory support in facioscapulohumeral muscular dystrophy

Abstract—Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscu-lar diseases. The prevalence of respiratory failure in facioscapulohumeral muscular dystrophy (FSHD) is unknown. The authors identified 10 FSHD patients on nocturnal ventilatory support at home, representing approximately 1 % of the Dutch FSHD population. Severe muscle disease, wheelchair dependency, and kyphoscoliosis appeared to be risk factors for respiratory failure. NEUROLOGY 2004;63:176–178 Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder and is asso-ciated with contraction of the D4Z4 repeat array on chromosome 4q35 in 95 % of cases. FSHD has a vari-able age at onset and a variable rate of progression. Initially, the facial and shoulder girdle muscles are affected; during disease progression, pelvic and lower limb muscles get involved. Approximately 10 to 20% of the patients become wheelchair dependent, but a