Rare Diseases A Z

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Rare Diseases A Z

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 cord. Syringomyelia is a rare disease in which a fluid-filled cyst, or syrinx, forms in the spinal cord. Over time, the syrinx can grow and compress on the spinal cord, which can interfere with the body's ability to send information to and from the

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What a Porphyria Urine Sample Measures

Porphyrias are rare enzyme disorders. Diagnosis involves a urine porphyrin test. Learn why increased porphyrins cause porphyria symptoms. Porphyria [por·fee·ree·uh] is a group of disorders caused by abnormal function of the enzymes involved in the production of heme. Heme is a major component of hemoglobin, the oxygen-carrying component of red blood cells. Heme is also produced in

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Causes of a Desmoid Tumor

The exact cause of desmoid tumors is unknown. This article discusses genetic mutations that play a role and risk factors. Desmoid tumors, otherwise known as aggressive fibromatosis or desmoid-type fibromatosis, are a rare type of a benign connective tumor. There are no known direct causes of a desmoid tumor. However, research shows there is a genetic component.

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Desmoid Tumor Treatment

Treatment of a desmoid tumor may involve a combination of active surveillance, surgery, radiation, chemotherapy, or prescription medications. Desmoid tumors are benign (noncancerous) tumors that may grow slowly or become more aggressive and invade nearby structures or tissues. Those with a desmoid tumor will work with a multidisciplinary team to develop a treatment plan. The

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How a Desmoid Tumor Is Diagnosed

Desmoid tumor signs and symptoms, diagnostic tests, and why a biopsy is important. Desmoid tumors are a rare type of benign (noncancerous) tumor. Some grow for months or years before a person notices them. Others cause symptoms such as pain or swelling. While there are no at-home testing or screening options, it’s important

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What Is Acromegaly?

Acromegaly is a rare disorder that affects normal growth in children and adults. Learn about the role of the pituitary gland and growth hormone (GH). Growth hormone (GH), is a hormone that is released from the pituitary gland, which is located at the base of the brain. GH plays an important role in the development and growth of many of the tissues and organs in the body.GH also causes the release

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Symptoms of a Desmoid Tumor

Symptoms of a desmoid tumor can include a lump, pain, tingling, swelling, sleep loss, decreased mobility, and gastrointestinal issues. Symptoms of a desmoid tumor vary depending on its size, stage, and location. How much the tumor invades the nearby tissues, organs, or blood vessels also plays a role. Because these tumors affect flexible and easily moved tissues, they can exist for

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Types of Rare Diseases

While certain medical conditions may be rare, it's just as important to stay informed about them. Explore the causes and treatment of rare diseases.

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Symptoms and Treatment of Kikuchi Disease

Kikuchi disease is a rare, not life-threatening disease that affects lymph nodes. Find out who is at risk, plus symptoms, diagnosis, and treatments. Kikuchi disease, also called histiocytic necrotizing lymphadenitis or Kikuchi-Fujimoto disease, is a disease that affects the lymph nodes, causing lymph node inflammation. The exact cause of the disease is not yet known, although some

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After A Near-Death Experience, Here's How I Recovered From Mind-Body Trauma

Recovery isn't just for physical injuries.

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Can You Drink Alcohol While Taking Melatonin? Experts Weigh In

Here's why you should never mix them.

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