Article

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease,
characterized by an autosomal dominant mode of inheritance, facial involvement,
and selectivity and asymmetry of muscle involvement. In general, FSHD typically
presents before age 20 years. Usually, FSHD muscle involvement starts in the face
and then progresses to the shoulder girdle, the humeral muscles and the abdominal
muscles, and then the anterolateral compartment of the leg. Disease severity is
highly variable and progression is very slow. About 20% of FSHD patients become
wheelchair-bound. Lifespan is not shortened. The diagnosis of FSHD is based on a
genetic test by which a deletion of 3.3kb DNA repeats (named D4Z4 and mapping to
the subtelomeric region of chromosome 4q35) is identified. The progressive
pattern of FSHD requires that the severity of symptoms as well as their physical,
social and psychological impact be evaluated on a regular basis. A yearly
assessment is recommended. Multidisciplinary management of FSHD--consisting of a
combination of genetic counselling, functional assessment, an assessment by a
physical therapist, prescription of symptomatic therapies and prevention of known
complications of this disease--is required.
Prescription of physical therapy
sessions and orthopedic appliances are to be adapted to the patient's
deficiencies and contractures.
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Langue : ANGLAIS