Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral
dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been …

Facioscapulohumeral muscular dystrophy (FSHD)—the worldwide third most common
inherited muscular dystrophy caused by the heterozygous contraction of a 3.3 kb tandem …

Objective Therapeutic perspectives have brought attention to the development of
instruments to accurately evaluate the degree of pathology in patients with …

Objective: In this study, involvement of paraspinal muscles in 50 patients with
facioscapulohumeral dystrophy (FSHD) was evaluated using MRI. Methods: The Dixon MRI …

Objectives Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically
linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases …

Background In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early
involved and often difficult to assess only relying on physical examination. Our aim was to …

Background Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is the third most
common inherited muscular dystrophy. Considering the highly variable clinical expression …

Measuring the severity and progression of facioscapulohumeral muscular dystrophy (FSHD)
is particularly challenging because muscle weakness progresses over long periods of time …

Contrary to the classical form, infantile facioscapulohumeral muscular dystrophy (FSHD)
usually denotes a severe phenotype and is frequently associated with extramuscular …

To better understand postural and movement disabilities, the pattern of total body muscle fat
infiltration was analyzed in a large group of patients with facioscapulohumeral muscular …