What is the pathological mechanism of muscular dystrophy?

Progressive muscular dystrophy is a group of primary skeletal muscle diseases caused by genetic factors, which is clinically manifested by slowly progressive muscle atrophy, muscle weakness and varying degrees of movement disorders.

The disease can be caused by a variety of inherited ways, and its clinical manifestations have different characteristics, so that many types can be formed.

The clinical features are a slow onset of progressive weakness and atrophy of the proximal muscles of the extremities, mostly starting proximally, symmetrically, with myopathic facies, winged shoulders and duck gait, often coexisting with pseudohypertrophy.

Progressive muscular dystrophy.

Progressive muscular dystrophy is a type of muscle degenerative disease caused by genetic defects, with progressive muscle weakness and atrophy as the main clinical manifestations. Due to the different genetic defects, the clinical symptoms appear at different times and can be as early as the fetal period or in adulthood. As the name of the disease suggests, the course of muscular dystrophy is generally progressive, but the rate of disease progression varies.

On May 11, 2018, the National Health Commission and other five departments jointly formulated the "First Batch of Rare Disease Catalog", and progressive muscular dystrophy was included. [1]

Western medicine name. Progressive muscular dystrophy.

Affiliation. Internal Medicine - Neurology.

Site of onset. Muscles.

The main symptoms. Muscle weakness.

Main**. Genetic defects.

Introduction to the disease. Duchenne muscular dystrophy, also known as pseudohypertrophic muscular dystrophy and Duchenne muscular dystrophy, is an X-linked recessive inherited disease. The annual incidence rate is about 1 in every 3500 live births.

The disease-causing gene DMD is located at XP21, which occurs in males and carries the disease-causing gene in females. Children with DMD generally develop muscle weakness at the age of 3 to 5 years, and the condition progressively worsens, losing the ability to walk independently at about 12 years of age, and dying of muscle weakness and respiratory failure at about 20 years of age. Becker's muscular dystrophy is also caused by a defect in the DMD gene, and the clinical symptoms appear later than Duchenne muscular dystrophy, which progresses relatively slowly, and can still walk independently after the age of 18, and can survive until adulthood40

Everyone should have a certain understanding of muscular dystrophy, and in recent years, the incidence of the disease has been growing in our country, and more and more people are harmed by the disease, so we must correctly find out the cause of muscular dystrophy, because only in this way can we prevent the emergence of the disease from the source of muscular dystrophy and protect our health. Let's get to know the ** of the debate travel disease together!

There is a prominent family history of muscular dystrophy, which is more common in men than in women, and progressive muscle wasting weakness is the main clinical manifestation. In order to suppress the occurrence of the disease, the key is to do a good job of genetic inquiry, prenatal examination, and a brief description and examination of the family tree of the carrier, which is an important way to reduce the occurrence of the disease.

All types of muscular dystrophy are caused by genetic defects, which are inherited diseases. Different types of heredity are not the same. Neurology experts point out that heredity includes hidden blind lesions, which refers to those who carry diseased genes that do not develop the disease, but can cause the disease due to some reasons after the next generation.

At present, most scholars believe that the causes of muscular dystrophy also include abnormal structure and function of muscle cells, resulting in the deposition of calcium ions in cells, a large amount of intracellular enzyme overflow, abnormal and abnormal mitochondrial oxidation, changes, and muscle fiber lysis, which in turn cause the emergence of the disease.

There are many reasons for this, and it is recommended to go to Shijiazhuang Yiling Hospital to see if it is more safe to get sick.

Genetic factors and genetic mutations are the most important factors in muscular dystrophy. Both of these causes are basically due to the lack of encoded proteins, which makes muscle fibers weak, which can cause symptoms such as muscle atrophy. Of course, muscular dystrophy may also be caused by poisoning, spinal cord lesions, or brain-derived muscular atrophy, which needs to be treated after a comprehensive examination**.

The most predominant** muscular dystrophy is inherited and mutated. Genetic mutations lead to changes in the structure and function of cellular proteins, which further leads to the instability of muscle cell membranes, and eventually the necrosis and loss of function of muscle cells. In addition to genetic and genetic factors, there are other factors that cause muscular dystrophy in clinical practice, and the specific causes are as follows:

The most common cause of muscular dystrophy is heredity and is characterized by a lack of the encoded protein due to a deletion or mutation of genes, which leads to symptoms such as muscle atrophy and weakness in Shanchai. Another common reason is that the gene mutation, children cannot produce anti-muscle dystrophy protein, which has a protective effect, when this encoded protein is missing, calcium ions will penetrate into muscle cells, resulting in a waterfall effect, which makes muscle fibers weak and fragile. In the process of contraction, the muscles undergo mechanical movements, which can further cause muscle atrophy and weakness, and eventually lead to the death of muscle cells, causing muscular dystrophy.

In addition to the above two causes, poisoning, spinal cord lesions, or brain-derived amyotrophy may also be possible. Toxic factors may be related to manganese, copper, silicon, and neurotrophic factors, which may cause the SOD mutation to cause inactivity, hence muscular dystrophy. Spinal cord lesions are caused by damage to neurons in the brain, such as injury, spinal cord compression, herpes zoster myelitis, etc.

For brain-borne amyotrophy, cerebral cortical atrophic lesions are common, especially in children, such as parietal lobe lesions of the cerebral hemispheres or deep spatial lesions of the cerebral hemispheres, which can also cause muscle atrophy in the corresponding parts of the body.

Among the above-mentioned causes of muscular dystrophy, genetic factors and genetic mutations are the most important causes. The underlying cause is the lack of encoded proteins, which makes muscle fibers fragile, causing symptoms such as muscle atrophy. Of course, there may be spinal cord lesions or brain-derived muscular atrophy, once you suffer from muscular dystrophy, you should exercise appropriately, work and rest reasonably, and eat a balanced diet in your daily life.

In our daily life, muscular dystrophy is a very common, but also a very serious disease, many patients in the discovery of this disease, for what is caused but do not know very well, so you will ask such a question, then, for muscular dystrophy of the ** What are the problems, let's take a look at it together.

One. Acquired dystrophy and weak spleen: The spleen is the foundation of nurture, the source of qi and blood biochemistry, the main muscles and limbs.

What are the causes of muscular dystrophy? On top of the normal physiological state, it can pass through the stomach to accept the rotten water valley, the spleen to transport the function, absorb the nutrient subtle substances, and change into qi and blood. The spleen is healthy, the qi and blood are biochemically active, the muscles and muscles are nourished, and the muscles and muscles are full, and the body is healthy and disease-free.

"Progressive muscular dystrophy" is more common in children because the children's organs are delicate, the shape and qi are not filled, the spleen is often insufficient, and the patient's congenital deficiency, weak spleen, spleen is not healthy, and can not biochemical qi and blood, then the deficiency of qi and blood can not nourish the muscles and limbs, and the muscles are atrophied and weak.

Two. Congenital deficiency Liver and kidney deficit:

What are the causes of muscular dystrophy? Myotrophic malfunction is caused by genetic factors, which has been confirmed by modern medicine. Traditional Chinese medicine (TCM) has always had an understanding of the influence of genetic factors on people.

The strength of our innate endowment will directly affect our birth, aging, sickness, and death. Therefore, experts believe that this disease is due to the lack of kidney qi of the parents, which leads to the lack of essence qi of the children and the parents, which is the main cause of this disease. The waist is the house of the kidneys, and the essence of the congenital kidneys is insufficient, so the waist cannot be raised, so children see weakness in the lower back; Deficiency of kidney essence can affect the deficiency of liver yin, liver and kidney yin deficiency, can not moisten the muscles and veins and cause limb weakness, which is also the so-called "liver disease is not used in the limbs", yin deficiency can cause liver yang to hyperactivity, liver yang wind, wind swaying, so the patient sways left and right when walking.

There are many, and it is recommended that patients go to Shijiazhuang Yiling Hospital for treatment to determine the cause of the disease.

The study of the pathogenesis of this disease has attracted worldwide attention. Over the past decades, there have been theories such as vascular, neurotic, muscle fiber regeneration disorder and cell membrane defects, but a large number of research evidence shows that cell membrane defects play an important role in the occurrence of this disease. One-third of newborn boys are caused by genetic mutations.

With the in-depth development of molecular biology research, the pathogenesis and pathogenesis of this disease have been further elucidated. It has been clarified that this disease is a type of monogenic inherited disease, and the inheritance mode is diverse, many pathogenic genes have been located and cloned, some gene products have been elucidated, and some pathogenic genes are still unknown. Mutations in related gene loci can cause defects and abnormalities in the structural proteins of the muscle membrane that are the products of their expression.

There is also a new understanding of the molecular mechanisms of different types and subtypes. Among them, Duchenne and Becker muscular dystrophy (DMD, BMD) are the most deeply studied. DMD is an X-linked recessive genetic disease, and the pathogenic gene has been mapped in the 1 band 2 3 sub-zone of the short arm of the X chromosome, and the cDNA of the gene has been cloned, with a total length of 14kb, 60 65 exons, and the gene expression product is dystrophin (dystrophin, dys).

When there is a deletion, duplication, or other form of mutation such as point mutation in a gene, the absence of dys or structural dysfunction is the root cause of DMD. The BMD gene is in the same region as DMD and is an allele of each other. DYS is located in the inner layer of the myofibrous membrane and is a cytoskeletal protein that stabilizes the myofibrous membrane.

In DMD patients, due to the lack of dys in muscle fibers, the integrity of the muscle membrane structure is destroyed, and a large number of extracellular components rich in calcium ions flow into the muscle cells, which eventually leads to myofiber degeneration, necrosis and morbidity. The causative gene of Emery-Dreifuss muscular dystrophy is mapped to XQ28, and its encoding protein is Emerin. In recent years, it has been found that the occurrence of limb-girdle muscular dystrophy (LGMD) is related to genetic defects in the dystrophin-glycoprotein complex (DGC) attached to the muscle fiber membrane.

DGC plays an important role in maintaining the stability of myofibrous membranes and preventing membrane damage and necrosis. Facicoscapulohumeral muscular dystrophy (FSHD) is the most common autosomal dominant myopathy in adults. The gene localization is 4q35, the gene has not been cloned, and the encoded protein has not been isolated, but FSHD has been shown to be related to the deletion of copy number of tandem repeats at the end of the long arm of chromosome 4.

Molecular mechanisms of different subtypes of other subtypes, such as distal muscular dystrophy, are also being recognized.

Progressive muscular dystrophy is a primary skeletal muscle disorder caused by genetic factors. Slow-moving muscle atrophy, muscle weakness, and varying degrees of dyskinesia.

What is the cause of muscular dystrophy, the occurrence of muscular dystrophy is mainly related to genetic factors, when the patient's body has a large number of deletions and duplications of genes will lead to the occurrence of this disease, once the disease is serious, it will lead to paralysis of the patient, so the patient must pay attention to this disease.

Muscular dystrophy is a disease that generally occurs in childhood, and then as the patient gets older, the severity of the disease will become more and more serious, and the patient's condition is likely to lead to paralysis after reaching a certain level, so it can be seen that the disease is extremely harmful to the patient's body, so we must pay attention to this disease. So what causes muscular dystrophy?

In fact, the occurrence of muscular dystrophy is mainly caused by genetic factors, and the way of inheritance is diverse, although there are many genes and have been located and cloned, and some gene products have also been clarified, but there are also some pathogenic genes so far are also a lot of very clear, but according to the research found that the occurrence of this disease may be caused by the mutation of the gene locus, caused by the defects and abnormalities of the expression product muscle membrane structural protein. Once the disease occurs, it will directly affect the patient's physical health.

In addition, there are some patients who have mutations due to the deletion of large fragments of genes or repeated mutations, which can easily lead to dysfunction or structural dysfunction, which will also cause muscular dystrophy. The BMD gene and DMD are in the same area, and DYS is located in the inner layer of the muscle fiber membrane, which can play a role in stabilizing the muscle fiber membrane, when the DYS is abnormal, it will naturally lead to the occurrence of muscular dystrophy, so the occurrence of muscular dystrophy is directly related to heredity, so we should do a good job in prenatal diagnosis at ordinary times, so as to play a preventive role in this disease.