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How fast does Fabry's disease progress?
Although the disease begins in childhood, Fabry's disease progresses very slowly.
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 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 research is being conducted to treat Fabry's disease?
Enzyme replacement therapy to treat Fabry's disease is currently being explored.
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?
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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.
What are the initial signs of Fabry's disease in childhood?
The first symptoms of Fabry's disease in childhood are pain and discomfort in the hands and feet brought on by exercise, fever, stress, or changes in the weather.
What chromosome is affected in fabry disease?
The allele that is responsible of Fabry Disorder/Disease is located on the X chromosome and is the only lipid storage disorder identified as being sex linked.
