What are the main manifestations of progressive muscular dystrophy? Are there any typical symptoms? Duchenne muscular dystrophy is the most common X-linked recessive genetic myopathy in China, with an incidence of about 3/100,000 live male infants and 50% of boys born to females who are carriers of the causative gene. However, subsequent growth is slower and shorter than normal. The prominent symptom is muscle weakness in the pelvic girdle, which is characterized by slow walking, toe landing, easy falling, difficulty in standing on stairs and squatting, and duck walking. Due to the weakness of the abdominal and iliopsoas muscles, the child must first turn over to a prone position when rising from a supine position; then flex the knee and hip joints and support the trunk with hands into a prone kneeling position; then support the trunk with both hands and legs together; then press the knee with hands to assist the muscles of the quadriceps, and the body is in a deep bowing position; and finally stand slowly with hands attached to the lower limbs. The above action is called Gower’s sign, which is the characteristic manifestation of DMD. With the increase of symptoms, Achilles tendon contracture appears, and both feet droop. The scapular girdle muscle and upper arm muscle are often involved at the same time, but to a lesser extent, the pterygoid scapula can be seen, which is most obvious when the two arms are pushed forward. 90% of children have muscle pseudohypertrophy, with the gastrocnemius muscle being the most obvious. Children are generally unable to walk at age 12 and are wheelchair bound. There is no sensory dysfunction in the disease. In the late stage of the disease, the muscles of the whole body are significantly atrophied and the tendon reflexes disappear; the knee, elbow and hip joints cannot be flexed and straightened due to muscle contracture. Most patients die at the age of 20 to 30 due to respiratory infections and heart failure. Does sensory dysfunction occur? There is no sensory dysfunction in this disease. Is there any effect on intelligence in patients with juvenile onset? About 30% of children with Duchenne muscular dystrophy have varying degrees of mental retardation. What is the difference between progressive myotonic dystrophy and myasthenia gravis? The oculomotor and oculopharyngeal forms of the disease need to be differentiated from myasthenia gravis. Myasthenia gravis is an acquired autoimmune disease with impaired neuromuscular junction transmission. The main clinical manifestations of myasthenia gravis are skeletal muscle fatigue, aggravation of symptoms after activity and reduction after rest, and significant improvement of symptoms after treatment with cholinesterase inhibitors. How to treat and prevent progressive myotonic dystrophy? There is no effective treatment for progressive muscular dystrophy, but only symptomatic treatment and supportive treatment, such as increasing nutrition, moderate activity (do not encourage strenuous exercise), etc. If there are spinal and joint deformities, orthopedic surgery can be performed. Medications are available such as ATP, inosine, glucocorticoids, calcium channel blockers, anti-inflammatory drugs, pro-protein synthesis drugs, and aminoglycoside antibiotics. Gene and stem cell transplantation treatments are currently being investigated with the aim of benefiting more children in the near future. Since there is no effective treatment for the disease, prenatal diagnosis and screening is very important. The process is to first identify the type of gene that causes the disease in the child, then determine if the mother is a carrier, and if she is a carrier, determine if the pregnancy is a male or female fetus, perform prenatal genetic diagnosis on the male fetus, and if the gene is detected, terminate the pregnancy to prevent the birth of the child.