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Rare Diseases

Also known as an orphan disease, a rare disease is an illness that typically affects less than 200,000 people in the U.S. and doesn't always get adequate research funding.

All articles in Rare Diseases

This article will review the symptoms, causes, and management of acute disseminated encephalomyelitis. Symptoms of the preceding illness include headache, fever, nausea, vomiting, or altered mental status, followed by the condition-specific symptoms of difficulty controlling limbs or eyes, trouble swallowing, speaking, or urinating, vision loss, spastic movements of the limbs, seizures, bleeding in the brain, as well as possible depression and psychosis.

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Acromegaly is disorder in the pituitary glands caused by a noncancerous tumor and results in the swelling or enlargement of the face, hands, and feet.

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Friedreich's ataxia is a disease that causes progressive damage to the nervous system and affects nerve fibers leading from the spinal cord to the arms and legs.

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Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. People with hemophilia experience frequent bruising and prolonged bleeding.

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Wegener's granulomatosis, or granulomatosis with polyangiitis, is a disorder in which a dysregulated immune system causes inflammation of small blood vessels.

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Congenital adrenal hyperplasia (CAH) is an inherited (genetic) disorder that causes the adrenal glands to make too much or too little of important hormones.

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Kleine-Levin syndrome (KLS) is a very rare sleep disorder characterized by persistent episodic hypersomnia and cognitive or mood changes.

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This article will review the symptoms, causes, management, and prevention of Goodpasture syndrome. Symptoms include fatigue, weakness, nausea, a loss of appetite, pale skin, lung symptoms such as a cough, shortness of breath, or coughing up blood, and kidney symptoms such as painful urination, reduced urination, and swelling, among others.

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