Talk to Pediatrician on Carrio Typing For A Muscular Dystrophy Patient
Asking for Self, Female, 4.5 years old, Lahore
Asslam o alaikum Dr My daughter is 4.5 years old, her cpk and hdl are high and muscular dystrophy was also confirmed with EMG test. A couple of days ago i visited gynaecologists for some personal problem and after knowing about my daughter's Muscular dystrophy she advised me to go for carrio typing test She tried to explain me that muscular dystrophy is a genetic based disease so me and my husband must undergo lab tests to know who is carrying that defective gene. I have a 2.5 years old boy also..he's perfectly alright I want to know if it is true that muscular dystrophy is totally a genetic disease and to plan for next baby we nust do the relevent lab test. Please guide me as I am much worried abiut my son too.
Dr. Muhammad Zahir Babar - Pediatrician
MD, FCPS | Murree
Salam, Mam please share the labarotary reports please. As you mentioned she is your daughter and 4.5 years old. DMD is very rare in females as it is purely X-linked by inheritence . Means females will be carrier and if in case of inactivation of one X chromosome in carrier female. She could have the condition. Do you want to say spinal muscular atrophy as this disease could present in different age groups. So, before moving ahead kindly share snapshot of reports.
Duchenne Muscular Dystrophy is the commonest of the types and is inherited in such a way that males are affected and females are the carriers of the disease. This is called X-linked Recessive mode of inheritance. However, females can be affected, by a process called Lyonisation or X-inactivation. In case of any inheritable disease, genetic testing is mandatory to predict about the manifestation of the disease in future pregnancy outcomes. If you could upload a scan of the Karyotyping result one can offer better guidance.
For further queries and assistance kindly book video appointment. After live consultation session and discussion i shall be able to conclude finally what is actually going with your loved one daughter. Furthermore after reviewing the test reports i can better guide you for future pregnancy. Regards, Dr M.Z.Babar .
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