These muscles weaken and shrink atrophy. Symptoms usually appear before 20 years of age. The disease slowly gets worse, causing weakness in other parts of the body.
Facioscapulohumeral muscular dystrophy is a muscle weakness and loss of muscle tissue that gets worse over time. Facioscapulohumeral muscular dystrophy affects the upper body. It is not the same as Duchenne muscular dystrophy and Becker muscular dystrophywhich affect the lower body.
Photograph of patient 2 from family 1 shows bilateral ptosis and ocular movement disorders. Arch Neurol. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype.
For further help with patient issues and resources please contact Daniel Paul Perez at either:. Facioscapulohumeral muscular dystrophy or FSHD is the most prevalent muscular dystrophy affecting men, women and children. FSHD is one of the nine primary types of muscular dystrophy.
Facioscapulohumeral dystrophy FSHD is the third most common inherited muscular dystrophy after Duchenne dystrophy and myotonic dystrophy. Over the last decade, major advances have occurred in the understanding of the genetics of this disorder. Despite these advances, the exact mechanisms that lead to atrophy and weakness secondary to the genetic defect are still not understood.
Professional Reference articles are designed for health professionals to use. You may find the Muscular Dystrophies article more useful, or one of our other health articles. Facioscapulohumeral muscular dystrophy FSHD is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation.
This 73 year old woman had symptoms of weakness and pain for many years, beginning with neck flexor weakness. Throughout her working life, these difficulties produced minimal disability. She subsequently developed pelvic girdle weakness, but it was her pain that prompted her to seek medical evaluation.
Facioscapulohumeral muscular dystrophy FSH is an autosomal dominant condition with frequent sporadic cases that is the third most common dystrophy. First described init has a prevalence estimated atThe most common presenting symptom is an inability to reach above the shoulder level.
Usually, symptoms develop during the teen years, with most people noticing some problems by age 20, although weakness in some muscles can begin as early as infancy and as late as the 50s. In some people, the disease can be so mild that no symptoms are noticed. In these cases, the disease may only be diagnosed after another, more affected member of the family comes to medical attention.