What are the signs and symptoms of Fabry disease?
What are the symptoms of Fabry disease?
- Numbness, tingling, burning or pain in the hands or feet.
- Extreme pain during physical activity.
- Heat or cold intolerance.
- Abnormal opacity of the eye (cornea), which does not change someone’s vision.
- Dizziness.
- Flu-like symptoms, including fatigue, fever and body aches.
Is Fabry disease neurological?
The neurological manifestations of Fabry disease include both peripheral nervous system and CNS involvement, with globotriaosylceramide accumulation found in Schwann cells and dorsal root ganglia together with deposits in CNS neurones.
What is Fabry fog?
Additionally, patients have a greater risk of stroke. Researchers also are beginning to see signs of cognitive impairment — dubbed “Fabry fog” by advocates, including Burian — though it’s not usually listed as a symptom.
What type of doctor treats Fabry disease?
Gastroenterologist. Fabry disease can cause digestive symptoms that a specialist called a gastroenterologist can treat.
How is Tay-Sachs detected?
The diagnosis of Tay-Sachs disease may be confirmed by a thorough clinical evaluation and specialized tests such as blood tests that measure the enzyme activity levels of hexosaminidase A. Molecular genetic testing for mutations in the HEXA gene can confirm a diagnosis of Tay-Sachs disease.
Is there a cure for Fabry disease coming soon?
There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.
Common signs of Fabry disease may include: Pain, numbness, burning, or tingling in your hands and feet Small, dark red spots on your skin, often between your bellybutton and knees Fevers
How does Fabry disease affect the peripheral nervous system?
Weakness, lightheadedness, dizziness, vertigo (spinning dizziness) and headaches from neurological damage, and other cerebrovascular disease impacts Peripheral neuropathy (damage to the peripheral nervous system) which causes or exacerbates many other Fabry disease symptoms
How is Fabry disease diagnosed in males?
Since the GLA gene is located on the X chromosome, Fabry disease is inherited in an X-linked manner. Although an enzyme assay test measuring the activity of alpha-GAL can diagnose Fabry disease in males, diagnosis is usually made by genetic testing in both males and females.
Where can I find more information about Fabry disease?
Where to Start 1 The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases. 2 Genetics Home Reference (GHR) contains information on Fabry disease. 3 The National Fabry Disease Foundation offers information and support for Fabry disease.