Running and jumping is a natural instinct of human beings. However, there is a group around us that is denied this right at a young age or even a young age.
February 28, 2022 is the 15th International Rare Disease Day. On the morning of that day, a multidisciplinary free clinic for congenital muscular dystrophy was held in the outpatient clinic of the Second Affiliated Hospital of Anhui Medical University. Our province held a large-scale free clinic for the disease for the first time. The reporter noticed at the scene that experts from neurology, pediatrics, prenatal diagnosis center, rehabilitation and sports medicine department, pharmacy department, nursing department and other multi-disciplinary experts attended the clinic to answer questions for the majority of children and parents, and popularize the prevention and treatment of rare diseases for the public. Knowledge.
More than 400 confirmed patients have been registered in the province. What is “muscular dystrophy”? According to Professor Tian Yanghua, Deputy Secretary of the Party Committee, Executive Dean of the Second Affiliated Hospital of Anhui Medical University, Chief Physician of the Department of Neurology and Rare Disease Expert, Muscular Dystrophy is a group of hereditary progressive myopathy caused by defects in several genes that maintain normal muscle function. of slowly progressive muscle weakness and atrophy.
“Generally, the onset age of muscular dystrophy patients is in childhood or childhood. In many cases, the children’s unsteady walking caused by the disease is easily misunderstood by parents as late learning to walk, and is regarded as It is a normal phenomenon that delays treatment. As children grow older, their athletic ability is significantly worse than that of children of the same age after entering kindergarten or even school, and they will be discovered when they have obvious incoordination, clumsy walking, and difficulty in running.” Tian Yanghua It is pointed out that children with muscular dystrophy gradually develop abnormal gait, and it is more difficult to squat and stand, and to climb stairs. Most patients will lose the ability to walk later, and some patients will die before the age of 30, depending on the type.
“In our province, the diagnosis and treatment of muscular dystrophy is beginning to attract the attention of the society. At present, more than 400 patients have been registered and diagnosed.” Tian Yanghua told reporters.
Early identification and standard treatment is important
What are the types and characteristics of muscular dystrophy? According to reports, according to the typical genetic form and main clinical manifestations, muscular dystrophy can be subdivided into various types such as pseudohypertrophy, facial-shoulder-brachial type, limb-girdle type, and distal type. Among them, pseudohypertrophy is the most common type. According to clinical manifestations, it can be divided into Duchenne type and Becker type.
Specifically, Duchenne-type malnutrition (DMD) is almost exclusively seen in boys, and 50% of male offspring are affected if the mother is a carrier of the gene. Often onset at the age of 2-8, walking clumsily at the beginning, easy to fall, unable to run and climb stairs, lordosis of the spinal cord when standing, abdomen protruding, feet set apart, walking slowly and swaying, in a special “duck step” step state. It is very difficult to stand up from your back, you need to turn over and lie on your stomach first, then climb your knees with your hands, and gradually stand up. Becker type (BMD) often begins after the age of 10. The first symptoms are weak pelvic girdle and thigh muscles, slow progression, long course of disease, and can not walk until 25 years or more after symptoms appear, most of which are in 30- Paralysis still does not occur at the age of 40, and the prognosis is good.
How to identify and prevent the occurrence of muscular dystrophy? Experts pointed out that the diagnosis of muscular dystrophy can be performed by modern medical methods such as blood muscle enzyme determination, electromyography, nerve conduction velocity, muscle biopsy and genetic examination in addition to symptoms, physical examination and understanding of family history. Although there is still no cure for various types of muscular dystrophy with current medical technology, the course of the disease can be slowed down through medication and standardized treatment, while symptoms can be alleviated through exercise, physical therapy, rehabilitation training, respiratory care, and surgery. The patient was able to maintain basic living abilities. In addition, experts pointed out that for families with muscular dystrophy patients, it is recommended to go to the hospital for professional genetic counseling before preparing for pregnancy to evaluate the possibility of inheriting the disease to the next generation. Purpose. Hefei Newspaper All Media Reporter Tang Meng Li Fukai Correspondent Bai Huan