Patient's question:
Hello, Dr. Dai, I apologize for disturbing you. Here’s the situation: Starting from my grandmother’s generation, my grandmother had two brothers. One was healthy, while the other had a muscle disease, but the specific type was unknown. Apart from being unable to walk and gradually losing mobility, his intelligence and speech were normal. He passed away in his 40s. My grandmother had three daughters and one son, who is my only uncle, and he also has this muscle disease. He is now in his 30s and is still alive. The other daughters are normal. In our generation, all of my sisters are daughters and are normal. My younger sister’s son is also normal, but my older sister’s son has a similar muscle disease. He is now 19 years old and can barely walk, with his mobility continuing to deteriorate. He previously underwent stem cell transplantation, and the doctors diagnosed him with progressive muscular dystrophy. That was many years ago. I am a girl, 24 years old, married, and want to have a baby. I want to achieve optimal prenatal and postnatal care.Doctor's answer:
For your family's situation, it's the same whether you test your uncle or your cousins—choose one.Based on your description, the first consideration is BMD. Has the patient undergone relevant tests, such as blood enzyme profiling, electromyography, or muscle biopsy? Please upload these results, as they will help us make a more accurate judgment. Based on the current information, we recommend selecting the hereditary muscle disease test package, which costs 4,000 yuan.