DISTROFIA FACIOESCAPULOUMERAL PDF

Shaktigami Facioscapulohumeral muscular dystrophy Orphanet: High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Microarray analysis revealed altered expression in a broad range of genes, with greatest changes in those involved in growth and development and signal transduction. Physical examination to assess strength and functional limitations. In a study of 10 Dutch families, Wijmenga et al. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members.

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Facioscapulohumeral muscular dystrophy FSHD is a genetic muscle disorder in which the muscles of the face, shoulder blades, and upper arms are among the most affected. In FSHD, weakness first and most seriously affects the face, shoulders, and upper arms, but the disease usually also causes weakness in other muscles. FSHD is the third most common type of muscular dystrophy, behind Duchenne and Becker muscular dystrophies and myotonic dystrophy.

The estimated prevalence of FSHD about 4 cases per , individuals. Some experts divide FSHD into adult-onset and infantile-onset forms. The adult-onset which includes FSHD that begins in adolescence is far more common. In either type of FSHD, facial weakness can start in childhood.

Occasionally, other FSHD symptoms appear in early childhood. Infantile-onset FSHD generally runs a more pronounced course with regard to muscle weakness, and sometimes also affects hearing and vision.

Preliminary evidence suggests that the infantile-onset form is associated with a larger piece of missing DNA.

What causes FSHD? FSHD may be inherited through either the father or the mother, or it may occur without a family history. The most probable cause of FSHD is a genetic flaw mutation that leads to inappropriate expression of the double homeobox protein 4 gene DUX4 on chromosome 4, in the 4q35 region. What is the progression of FSHD? FSHD usually progresses very slowly and rarely affects the heart or respiratory system.

Most people with the disease have a normal life span. However, disease severity is highly variable. What is the status of research in FSHD? Blocking the erroneously activated genes or the proteins made from them seems a likely pathway for the eventual treatment of FSHD. References Understanding Neuromuscular Disease Care.

Parsippany, NJ. Mostacciuolo, M. Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a north-east Italian population sample. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy.

EPopulation-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3. Gene

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