What Is Facioscapulohumeral Muscular Dystrophy?
Facial and shoulder brachial muscular dystrophy (English name: Facioscapulohumeral muscular dystrophy, FSHD for short) is a hereditary muscle disease that is most affected by the muscles of the face, shoulders, and upper arms. The FSHD name comes from three parts: facies, which means face in Latin and medical vocabulary; scapula, which means shoulder in Latin and anatomical vocabulary; humerus, which means slave from shoulder in Latin and anatomical vocabulary To the skeletal part of the elbow (the humerus).
Facioscapulohumeral muscular dystrophy
- Facial shoulder brachial muscular dystrophy (English name: Facioscapulohumeral muscular dystrophy, FSHD for short) is a genetic
- FSHD is almost always made up of
- Some experts divide FSHD into two types, adult and child. Adult (including FSHD from adolescence) is much more common than child.
- In any type of FSHD, facial muscle weakness may begin in childhood, and other FSHD symptoms may occasionally appear in early childhood. Muscle weakness caused by FSHD in children is more severe and sometimes affects hearing and vision. Preliminary evidence suggests that childhood-type FSHD is associated with the deletion of a larger DNA fragment.
- The speed and severity of disease progression varies greatly among patients with FSHD. Symptoms usually start in the early teens. Most patients have symptoms before the age of 20, and some people don't develop muscle weakness until early in childhood or late in their 50s. Some people are so sick that they don't see any symptoms. Such patients are often unaware of the illness themselves, and only after they have been diagnosed with a more severe relative have they been diagnosed.
- Usually, patients with these symptoms do not go to the hospital for treatment. When they have problems with their shoulder or leg muscles, they can't touch their heads or go up and down stairs before going to the hospital. When these patients were questioned in detail, many people could remember that they had symptoms in childhood, such as protruding shoulder blades or difficulty in pitching. Patients often say they can't whistle, can't blow up balloons, or drink with a straw, but they don't address these issues and
- Yes. FSHD patients except
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- The most reliable way to diagnose FSHD now is to detect
- FSHD sometimes interacts with
- Unfortunately, there are not many treatments so far. There are no specific treatments for FSHD. There are no treatments to prevent or reverse the progress of FSHD, but some treatments can reduce symptoms.
- Because FSHD is often accompanied by
- FSHD is indeed a
- MDA-funded researchers have done a lot of research on the molecular mechanism of FSHD, and they are using their knowledge to find a way to treat FSHD.
- In 1990, it was discovered that the genetic variation of FSHD occurred on chromosome 4. At that time, many researchers believed that there was a gene on this chromosome, and a mutation in this gene would cause FSHD to occur. Du-phenotype and Beck-type muscular dystrophy are known to be caused by mutations in a gene on the X chromosome). However, this is not the case. Researchers have not found any genes at the site where chromosome 4 is missing. The deletion site is where there are no genes on the chromosome. Researchers around the world are further studying this part of DNA.
- The study found that the role of the missing DNA on chromosome 4 is to tell cells which genes to express and which genes should be turned off. All cells express some genes and turn off other genes. The regulation of genes determines the type of cell. For example, the genes expressed and turned off by muscle cells and bone cells are different.
- A more commonly accepted view is that in FSHD, the deletion of a segment of DNA in chromosome 4 leads to errors in the regulation of adjacent gene expression, which leads to the disease.