Cystadane (Betaine) – Oral
What Is Cystadane? Cystadane (betaine) is a prescription medication used to treat homocystinuria—a rare genetic disorder that causes a buildup...
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Givlaari (Givosiran) – Subcutaneous
What Is Givlaari? Givlaari (givosiran) is an injectable prescription medication used to treat adults with acute hepatic porphyria (AHP). AHP is...
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What Is Distal Muscular Dystrophy?
Distal muscular dystrophy is the name of a group of progressive disorders that leads to weakness in the distal muscles. Distal muscular dystrophy...
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Syringomyelia: Overview and More
Syringomyelia 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...
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What Is Aplasia?
Aplasia is the congenital failure of a limb, organ or other body part to develop. Learn about different types of aplasia, their symptoms, and causes....
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Emflaza (Deflazacort) - Oral
What Is Emflaza? Emflaza (deflazacort) is a prescription drug used to treat a rare genetic muscle-wasting disease called Duchenne muscular...
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What Is Gorlin Syndrome?
Gorlin syndrome is a rare genetic disease that causes symptoms such as basal cell carcinomas and tumors. It can be challenging, but isn't fatal...
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What Is Gene Therapy?
Learn 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...
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Causes and Risk Factors of Fanconi Anemia
The 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...
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What Is Lymphedema?
Lymphedema is a condition where the lymph fluid in your body becomes backed up in your tissues causing severe swelling. Find out why this happens....
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What Is Carcinoid Syndrome?
Carcinoid syndrome is used to describe a series of symptoms that can develop due to carcinoid tumors. Find out more about this rare disease....
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What Is Kallmann Syndrome?
Kallmann syndrome is a genetic conditions causing delayed puberty and impaired sense of smell. It can be easily treated with established therapies....
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How Insulinoma Is Diagnosed
Insulinoma is diagnosed through screening, lab tests, and imaging. A 72-hour fast is often required to help diagnose an insulinoma. Learn more....
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What Is Acute Intermittent Porphyria?
Acute intermittent porphyria is a rare disease that can cause serious neurologic symptoms. Learn why early diagnosis and management are key. Acute...
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Muscular Dystrophy Life Expectancy
Muscular dystrophy life expectancy varies significantly based on disease type. Some have a normal life span, while others have a reduced life span....
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What Is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy is a progressive, usually fatal, genetic disorder that causes muscle weakness. Find out more. Duchenne muscular dystrophy...
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What Is Facioscapulohumeral Muscular Dystrophy?
Facioscapulohumeral muscular dystrophy causes progressive muscle damage but is not as severe as other muscular dystrophies. Learn more....
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What Is Porphyria?
Porphyrias 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....
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Symptoms and Causes of Paroxysmal Nocturnal Hemoglobinuria (PNH)
Paroxysmal nocturnal hemoglobinuria is a rare disorder that develops when blood cells are made. Learn more about causes and symptoms. Paroxysmal...
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How Paroxysmal Nocturnal Hemoglobinuria Is Diagnosed
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare condition that affects less than two in a million people. Find out how the condition is...
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How Is Paroxysmal Nocturnal Hemoglobinuria Treated?
Paroxysmal nocturnal hemoglobinuria is a chronic condition that can be lief-threatening. There are treatments that can help, but they come with...
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Coping With Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria is a rare chronic disease that can be challenging to manage. Learn what you can do to cope with PNH. Paroxysmal...
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What Is Porphyria Cutanea Tarda?
Porphyria cutanea tarda (PCT) is a chronic condition that can cause your skin to blister after exposure to the sun. Learn how this disease develops....
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What to Know About Muscular Dystrophy in Children As a Parent
Signs 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...
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What Is Von Hippel-Lindau Disease?
Von Hippel-Lindau (VHL) disease is a hereditary condition associated with tumors arising in multiple organs. Learn more. Von Hippel-Lindau (VHL)...
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Symptoms of Von Hippel-Lindau Disease
VHL disease itself often has no symptoms, but the tumors related to VHL disease may have noticeable signs. Learn more about symptoms and causes of...
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How Von Hippel-Lindau Disease Is Diagnosed
Diagnosing VHL disease typically involves imaging scans, blood tests, and a physical examination to check for tumors. Learn more. Von Hippel-Lindau...
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How Von Hippel-Lindau Disease Is Treated
Treatment of most cases of VHL usually involves surgery to remove the tumors. Certain tumors can be treated with focused high-dose radiation. Learn...
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