Patient's question:
Currently 9 years old, male, unable to get up after squatting, struggles with climbing stairs, cannot run, calf muscles are enlarged. The condition may have started around 3 years old. Is it due to hereditary factors from the previous generation, but there is no family medical history. How should I take care of it?Doctor's answer:
Progressive pseudohypertrophic muscular dystrophy is a genetic disease. The blood disease gene originates from the mother. If she has another child, if it's a boy, there is a 50% chance he will be a patient, and if it's a girl, there is a 50% chance she will be a carrier. During the 10th to 14th week of pregnancy, fetal villi can be obtained for genetic diagnosis, or amniocentesis can be performed after the 17th week of pregnancy to carry out genetic testing, so that the cause can be identified as early as possible.