Cystadane (Betaine) – Oral
What Is Cystadane? Cystadane (betaine) is a prescription medication used to treat homocystinuria—a rare genetic disorder that causes a buildup...
Read moreWhat Is Cystadane? Cystadane (betaine) is a prescription medication used to treat homocystinuria—a rare genetic disorder that causes a buildup...
Read moreWhat Is Givlaari? Givlaari (givosiran) is an injectable prescription medication used to treat adults with acute hepatic porphyria (AHP). AHP is...
Read moreDistal muscular dystrophy is the name of a group of progressive disorders that leads to weakness in the distal muscles. Distal muscular dystrophy...
Read moreSyringomyelia is a disorder in which a fluid-filled cyst forms within the spinal cord. Over time, the cyst can enlarge and may damage the spinal...
Read moreAplasia is the congenital failure of a limb, organ or other body part to develop. Learn about different types of aplasia, their symptoms, and causes....
Read moreWhat Is Emflaza? Emflaza (deflazacort) is a prescription drug used to treat a rare genetic muscle-wasting disease called Duchenne muscular...
Read moreGorlin syndrome is a rare genetic disease that causes symptoms such as basal cell carcinomas and tumors. It can be challenging, but isn't fatal...
Read moreLearn about gene therapy, which attempts to cure disease or improve the body's ability to fight it by adding a new gene or replacing a faulty...
Read moreThe exact cause of Fanconi anemia (FA) is unknown, but research has uncovered at least 16 genes that are linked to the disease. Learn more. Fanconi...
Read moreLymphedema is a condition where the lymph fluid in your body becomes backed up in your tissues causing severe swelling. Find out why this happens....
Read moreCarcinoid syndrome is used to describe a series of symptoms that can develop due to carcinoid tumors. Find out more about this rare disease....
Read moreKallmann syndrome is a genetic conditions causing delayed puberty and impaired sense of smell. It can be easily treated with established therapies....
Read moreInsulinoma is diagnosed through screening, lab tests, and imaging. A 72-hour fast is often required to help diagnose an insulinoma. Learn more....
Read moreAcute intermittent porphyria is a rare disease that can cause serious neurologic symptoms. Learn why early diagnosis and management are key. Acute...
Read moreMuscular dystrophy life expectancy varies significantly based on disease type. Some have a normal life span, while others have a reduced life span....
Read moreDuchenne muscular dystrophy is a progressive, usually fatal, genetic disorder that causes muscle weakness. Find out more. Duchenne muscular dystrophy...
Read moreFacioscapulohumeral muscular dystrophy causes progressive muscle damage but is not as severe as other muscular dystrophies. Learn more....
Read morePorphyrias are a group of disorders that affect the skin and nervous system. They are caused by a glitch in the process where blood cells are made....
Read moreParoxysmal nocturnal hemoglobinuria is a rare disorder that develops when blood cells are made. Learn more about causes and symptoms. Paroxysmal...
Read moreParoxysmal nocturnal hemoglobinuria (PNH) is a rare condition that affects less than two in a million people. Find out how the condition is...
Read moreParoxysmal nocturnal hemoglobinuria is a chronic condition that can be lief-threatening. There are treatments that can help, but they come with...
Read moreParoxysmal nocturnal hemoglobinuria is a rare chronic disease that can be challenging to manage. Learn what you can do to cope with PNH. Paroxysmal...
Read morePorphyria cutanea tarda (PCT) is a chronic condition that can cause your skin to blister after exposure to the sun. Learn how this disease develops....
Read moreSigns of muscular dystrophy in children appear around age 2-5 when a child starts to walk. Learn how to cope as a parent and help your child live...
Read moreVon Hippel-Lindau (VHL) disease is a hereditary condition associated with tumors arising in multiple organs. Learn more. Von Hippel-Lindau (VHL)...
Read moreVHL disease itself often has no symptoms, but the tumors related to VHL disease may have noticeable signs. Learn more about symptoms and causes of...
Read moreDiagnosing VHL disease typically involves imaging scans, blood tests, and a physical examination to check for tumors. Learn more. Von Hippel-Lindau...
Read moreTreatment of most cases of VHL usually involves surgery to remove the tumors. Certain tumors can be treated with focused high-dose radiation. Learn...
Read more