A 25-year-old young man died of a rare disease, and his mother’s behavior made people cry. This disease is temporarily incurable?

Recently, a piece of news brought tears to my eyes. The report said that a 25-year-old model player named Wang Renfei died of muscular dystrophy. His mother inherited his legacy and taught himself 3D printing to continue making. Model.

Let’s learn about the disease Wang Renfei suffers from – pseudohypertrophic muscular dystrophy. The main clinical manifestations of muscular dystrophy pseudohypertrophy are progressive muscle atrophy and weakness that, over time, ultimately affects the function of respiratory and cardiac muscles. According to clinical manifestations, it can be divided into Duchenne type (Duchenne) and Becker type (Becker).

1. What is the difference between the two types?

Both diseases are caused by mutations in a gene that encodes a muscle-protecting protein known medically as “dystrophin.” Mutations in this gene lead to impaired muscle development and regeneration.

Both diseases are inherited X-linked recessively, and males have only one X chromosome from the mother and one Y chromosome from the father. Therefore, women can be used as “carriers” of the gene, and the patients with clinical manifestations are all men. The difference between the two is that patients with Duchenne muscular dystrophy lack the protein myoprotectant, and patients with Becker muscular dystrophy have lower levels of this protein. So people with Duchenne muscular dystrophy begin to have symptoms in early childhood, while those with Becker muscular dystrophy tend to have less severe symptoms, and they usually show obvious symptoms in adulthood.

The early clinical manifestations of Duchenne muscular dystrophy are clumsy walking, easy falling, inability to run and climb buildings, and swaying, like a duck. Due to muscle weakness, it is very difficult to get up from a supine position. It is necessary to turn over and lie on the stomach first, then support the knees with both hands and then stand up. The disease progressed gradually, the arms could not be raised, and the scapulae became wing-like, and finally the intercostal muscles and facial muscles were also weak. Some affected muscles become hypertrophic due to the replacement of muscle fibers by fat. This “pseudohypertrophy” is more common in the gastrocnemius muscle, so it is also called pseudohypertrophic muscular dystrophy.

I met a 6-year-old child in the outpatient clinic. He went to the doctor because of clumsy walking. His parents said that he wanted to check the trace elements. I saw that the gastrocnemius muscle of the child’s calf was like an athlete, so I could basically consider it. Diagnosis of muscular dystrophy. After genetic testing confirmed Duchenne muscular dystrophy. Unfortunately, there is currently no cure for this disease, only symptomatic treatment. Most patients cannot walk by the age of 12, become bedridden by the age of 20, and often die of pneumonia.

Becker’s muscular dystrophy is characterized by weak thigh muscles, slow progression, and long course of disease. The patient cannot walk until 25 years or more after symptoms appear, and the prognosis is good.

Second, the hospital said that Wang Renfei was suffering from Bei’s disease. Why did his life stop at the age of 25?

Media reports said that Wang Renfei was diagnosed with DMD (Duchenne Muscular Dystrophy) in a local hospital when he was 5 years old. This disease is rare and not optimistic, because usually patients live only a dozen years. However, after traveling almost all over the country and repeated inspections several times, the inspection result given by the hospital is that Wang Renfei’s disease may not be DMD, but BMD (Bei’s Progressive Muscular Dystrophy). Although the symptoms are similar, they can theoretically live to thirty or forty years old. Wang Renfei’s death after fainting may have been caused by the disease involving the heart muscle.