Familial Mediterranean fever is an inherited disease that affects people from Mediterranean regions, caused by mutations in the MEFV gene. Lack of the protein pyrin leads to inflammation that causes pain in the abdominal, chest, and joint areas, and fever attacks. Treatment includes nonsteroidal anti-inflammatory drugs, and a genetic test may be given. Familial Mediterranean […]
Fatal familial insomnia is a rare genetic disease caused by prions attacking the thalamus, leading to the inability to sleep, weight loss, dementia, and eventually death. There is no cure, but gene therapy is a potential treatment. The disease was first identified by an Italian doctor and appears in fewer than 30 families worldwide. Fatal […]
Familial hemiplegic migraine is a rare genetic form of migraine that causes weakness on one side of the body. Symptoms can include visual auras, headache, sensitivity to light or sound, and nausea or vomiting. It is passed on by an autosomal dominant gene and can be diagnosed through genetic testing. Treatment options include preventive, abortive, […]
