Genetic Disorders Questions

Lipid myopathies (lm) are a group of muscular diseases with onset in all ages, due in most cases to enzymatic errors of lipid metabolism. Lm often, but not always, are characterized by lipid storage in muscle biopsy. Immunomodulatory/immunosuppressant drugs such as methotrexate, cyclosporine, tacrolimus, azathioprine, mycophenolate, rituximab and intravenous (ivig) or subcutaneous (subqig) immunoglobulin.
Corticosteroids such as prednisone or methylprednisolone.

Dear user, there is no study that shows the covid vaccine is a contraindication for g6pd deficiency. The vaccines are safe and should not have any side effects. However the strict diet and medication to be avoided have to be continues. You can consult me for more doubts regarding this online by clicking on my photo and booking an appointment however, if you found my answer helpful, please leave a positive feedback as it helps me with my practice. Thank you.

If you are carrier or one copy of defective gene and your husband is also carrier or one copy of defective gene then your baby has chance of glutaric acidemia type 1.
if you husband is normal then baby will be normal

It is autosomal dominant meaning 50 % of children have chance to get same.
Evidence shows that the syndrome is associated with an increased risk of extraintestinal malignancy, especially carcinomas of the pancreas, breast, and reproductive organs.

Hello lybrate-user. Treatment can be given only after seeing the reports. Depends whether it is biotinidase deficiency or something else
all the best.

Hello lybrate-user. You need to consult a geneticist. Need to see all the x-rays and the child to consider further genetic testing. Thereafter only we will be able to advise regarding the course of the disease. All the best.

Please read the article which was published regarding the BRCA gene editing from embryos. They didnt do gene editing. It was embryo selection. So those embryos which did not have the gene were implanted.
Gene editing if technically feasible, but a lot of problems with it at present.
Feel free to contact me directly if you want to discuss this further.

Hello,
Generally, within 10 to 20 years after the appearance of the first symptoms the person is confined to a wheelchair. Individuals may become completely incapacitated in later stages of the disease. Friedreich ataxia can shorten life expectancy, and heart disease is the most common cause of death.

Hi, Hemophilia B is a genetic disease, present since birth, and only treatment is factor replacement. The factor therapy ideally should be given prophylactically, that means should be given weekly for life long so as to prevent any bleeding episodes. If factor is not readily available, then you can use factor as and when injury occurs along with prompt ice application and avoiding over the counter NSAID pain medicines. There are lots of centre both Govt and Private including our centre, where Fa...more

Down syndrome may or may happen with your next pregnancy but after getting pregnant we can check the chromosome status before third month and plan accordingly