NCBI Bookshelf. Facioscapulohumeral muscular dystrophy FSHD typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Life expectancy is not shortened. The diagnosis of FSHD1 is established in a proband with characteristic clinical features by identification of a heterozygous pathogenic contraction of the D4Z4 repeat array in the subtelomeric region of chromosome 4q35 on a chromosome 4 permissive haplotype. The diagnosis of FSHD2 is established in a proband by identification of hypomethylation of the D4Z4 repeat array in the subtelomeric region of chromosome 4q35 on a chromosome 4 permissive haplotype.
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Material and Methods: Analysis of seven patients with genetic study seen in a public Hospital in Santiago. Results: The age of patients fluctuated from 18 to 61 years and four were females. The mean age at onset of symptoms was 29 years and four had a family history of the disease.
The usual presenting complaint was arm or shoulder asymmetric weakness. Four patients had bone pain. Facial involvement was present in four. A genetic study was done in five patients, the other two patients were relatives, confirming the contraction or lower number of repetitions in D4Z4 region. After 12 years of follow up only 2 patients older than 60 years cannot work and one female patients is in a semi dependent state at the age of Conclusions: The clinical workup in the diagnosis and the timely indication of genetic studies are highlighted, to avoid unnecessary and invasive procedures.
The variability in the phenotypic expression in a similar genetic defect is discussed and the genetic or epigenetic mechanisms of this muscular dystrophy are described. Quote Item Rev Med Chile ; The following license files are associated with this item: Creative Commons.
Facioscapulohumeral Muscular Dystrophy (FSH, FSHD)
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.