Incidence and impact of faciculoscapulohumeral muscular dystrophy

Mondo Health Updated on 2024-01-29

Facioscapulohumeral muscular dystrophy (FSHD) is a relatively common type of muscular dystrophy with a relatively high probability of sporadic results. The incidence is about 1-5 100,000, suggesting that globally, the disease may occur between 1 and 5 per 100,000 people. Of all cases, approximately 95% were FSHD1 and the remaining 5% were FSHD2. This disease has a serious impact on the quality of life and health of patients.

1. Incidence and geographical distribution.

The incidence of FSHD varies globally. In some areas, the incidence may be higher and lower in others. This difference may be related to geographical location, ethnic differences, and genetic factors. Despite the relatively low incidence of FSHD worldwide, it is still a disease that cannot be ignored and needs to be addressed and studied.

2. The type and cause of the disease.

There are two main types of facialscapulohumeral muscular dystrophy: FSHD1 and FSH2. Both types are caused by genetic changes involving the long arm (q) of chromosome 4. Specifically, this change occurs in a region of DNA (called D4Z4) near the end of a chromosome, which is made up of 11 to more than 100 repeating fragments. Abnormal changes in these segments can lead to muscular dystrophy, which affects the patient's muscle function and strength.

3. Symptoms and effects.

Patients with facimoscapulohumeral muscular dystrophy may experience a range of symptoms, including progressive atrophy and weakness of the muscles of the face, shoulders, and upper arms. These symptoms can interfere with activities of daily living, such as walking, lifting weights, and grasping objects. As the condition worsens, the patient may gradually lose the ability to live independently and become dependent on others for care.

4. Diagnosis and **.

Diagnosis of facicoscapulohumeral muscular dystrophy is usually confirmed by a series of tests, including genetic testing, muscle biopsy, and nerve conduction studies. The methods mainly include physics, drugs and training. Although there is currently no drug that can completely ** this disease, with reasonable ** and management, patients can effectively control the progression of the disease and improve their quality of life.

5. Prevention and attention.

Because facimoscapulohumeral muscular dystrophy is an inherited disorder, prevention focuses on avoiding consanguineous marriages and performing premarital genetic testing. For patients and families who are already suffering from this disease, society should give more attention and support. and institutions should invest more in research and methodological improvements to the disease. At the same time, the public should also improve their awareness and understanding of the disease and reduce discrimination and rejection of patients.

SixSummary and outlook

Facioscapulohumeral muscular dystrophy, although relatively low, has a serious impact on the quality of life and health of patients. The study of this disease and the improvement of methods is still a long-term and difficult task. However, with the advancement of science and technology and the improvement of medical standards, there is reason to believe that more effective methods will be available in the future to help patients better manage their conditions and improve their quality of life. At the same time, it is also expected that all sectors of society can give more attention and support to this disease, and jointly contribute to the improvement of the living environment and health status of patients.

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