0
What else can I help you with?
How fast does Fabry's disease progress?
Although the disease begins in childhood, Fabry's disease progresses very slowly.
Is Fabry disease life threatening?
Yes, Fabry disease can be life-threatening if left untreated. It can lead to serious complications like kidney failure, heart disease, and stroke, which can ultimately be fatal if not managed properly with treatment. Early detection and appropriate medical intervention can improve outcomes and quality of life for individuals with Fabry disease.
How many males are born with Fabry's disease?
Approximately 1 in every 40,000 males is born with Fabry's disease.
What is Fabry Disease and its toll on the body?
Fabry Disease is a kind of sickness of the skin. It is not that easy to heal it. There might be several reasons why someone get a fabry disease and a lot of doctors try to heal it with different methods.
What enzyme deficiency causes disease?
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
What research is being conducted to treat Fabry's disease?
Enzyme replacement therapy to treat Fabry's disease is currently being explored.
What are symptoms of Fabry's disease?
Symptoms of Fabry's disease include a decreased ability to sweat and changes in the cornea or outer layer of the eye.
What causes Fabry's disease?
Fabry's disease has an X-linked, recessive pattern of inheritance, meaning that the defective gene is carried on the X chromosome.
How is a female carrier of Fabry's disease detected?
Women who are carriers of the defective gene that causes Fabry's disease can also be identified by a blood test.
Can a female with fabry disease have children in the future?
Yes, a female with Fabry disease can have children in the future. However, since Fabry disease is inherited in an X-linked manner, there is a 50% chance of passing the mutated gene to her children. Sons who inherit the gene will typically have more severe symptoms, while daughters will usually be carriers, possibly experiencing milder symptoms. It’s important for women with Fabry disease to discuss family planning with a genetic counsellor or healthcare provider to understand the risks and options available.
Are there any prenatal tests for fabry disease?
nuggets
What symptoms of Fabry's disease may appear in female carriers?
Some female carriers of Fabry's disease show mild signs of the disorder, especially cloudiness of the cornea.
