Hypertrophic Cardiomyopathy Genetic Testing 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.

Hello lybrate-user. It is very less likely that you don't get the finger prints. If you have any skin disease then take proper homoeopathic treatment.

Not related to sex. Most of the medical problems need personally taking detailed medical history and examination with the need for reports sometimes so meet concerned doctor- neurophysician.

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.