ondine's curse disease
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Ondine's Curse: Local girl shares rare, life-threatening disease with subject of Oscar-nominated documentary Ondine's Curse: Local girl shares rare, life-threatening disease with subject of Oscar-nominated documentary. Four-year-old Madilyn Yang bounces into her bedroom after bath time, a blue-towel wrapped robe-like around her head and body. Her mother, Sarah Yang, waits on the floor near a plastic tub and some medical supplies. Madilyn's bedtime routine is pretty typical, for the most part. But she has a rare disease called Central Congenital Hypoventilation Syndrome, or Ondine's Curse, that adds a few steps to her bed-time prep.
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Congenital central hypoventilation syndrome Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood.
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- Sickle Cell disease is an autosomal recessive disorder that causes anemia, joint pain, a swollen spleen, and frequent, severe infections. It illustrates balanced polymorphism because carriers are resistant to malaria, an infection by the parasite Plasmodium falciparum that causes cycles of chills and fever.
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Osteonecrosis of the Jaw ONJ actually may be a bone infection (osteomyelitis) and not classical osteonecrosis. ONJ has recently been noticed in some people who have received high doses of bisphosphonates by vein, particularly if they have cancer or undergo oral surgery while receiving the drugs.
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Sickle cell disease Sickle cell disease is an inherited blood disorder characterized by defective hemoglobin (a protein in red blood cells that carries oxygen to the tissues of the body). Sickle cell disease inhibits the ability of hemoglobin in red blood cells to carry oxygen.
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What Is Toenail Fungus? Onychomycosis (on-i-ko-mi-KO-sis) is a common nail disease caused by dermatophytes, yeasts, and nondermatophyte molds. Trichophyton rubrum, T mentagrophytes, and Epidermophyton floccosum are the most common etiologic agents worldwide. Candida spp are the most frequent among the yeasts.
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Biblical Leprosy: Shedding Light on the Disease that Shuns Leprosy is a chronic inflammatory disease caused by the bacterium Mycobacterium leprae. In addition to pain and disfiguration, biblical leprosy and Hansen’s disease are both dreaded, and people were shunned because of them. The noun tsara’ath appears about two dozen times in the Hebrew text.he term “leprosy” (including leper, lepers, leprosy, leprous) occurs 68 times in the Bible—55 times in the Old Testament (Hebrew = tsara’ath) and 13 times in the New Testament (Greek = lepros, lepra).
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- Huntington's disease is a rare progressive hereditary condition caused by a mutation in a particular gene (Huntingtin). The course of the disease varies for each person, and dementia can occur at any stage. Huntington's is inherited in a simple single-gene pattern.
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- 1 Malaria, a disease. 2  Equine infectious anemia, a disease. 3  The mumps, a disease.  Swamp fever, a disease in the Elder Scrolls series of role-playing games.
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Onchocerciasis Onchocerciasis – or “river blindness” – is a parasitic disease caused by the filarial worm Onchocerca volvulus transmitted by repeated bites of infected blackflies (Simulium spp.).
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Alone we are rare. Together we are strong.â¥ Donate Today In Graves’ disease, antibodies mistakenly attack the thyroid gland, stimulating it to grow and produce an excess of thyroid hormone. Researchers also theorize that affected individuals may carry genes for, or have a genetic susceptibility to, Graves’ disease.raves' disease is a rare disease affecting the thyroid gland and often the skin and eyes. This disorder is characterized by abnormal enlargement of the thyroid gland (goiter) and increased secretion of thyroid hormone (hyperthyroidism).
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Corticosteroids Systemic (Oral and Injectable) Genetic Disease Related Diseases & Conditions. Medical conditions are often related to other diseases and conditions. Our doctors have compiled a list of ailments related to the topic of Genetic Disease.These conditions may be a cause or symptom of Genetic Disease or be a condition for which you may be at increased risk.Anemia Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin...learn more ».eigh's Disease (Leigh's Syndrome) Leigh's disease (Leigh's syndrome) is a rare genetic neurometabolic disorder. The symptoms of Leigh's disease include loss of...learn more ».
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Lupoid onychodystrophy The lupoid reaction observed histopathologically and the clinical signs of onychomadesis represent an immune-mediated disease of the claw, rather than an actual triggering event of the disease. A breed predisposition has been reported in the English Setter, Gordon Setter and Miniature Dachshund. In the Gordon Setter, concurrent black hair follicular dysplasia has been reported. This condition presents primarily as a disease of the claws of affected dogs and most dogs present with pad tenderness and lameness. Initially, separation of claw from claw bed and subsequent sloughing is noted on one or more claws, but within two to three months all claws might be affected.
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- One of the most well-known aspects of Japanese folklore is the oni, which has traits of demons and ogres, usually depicted with red, blue, brown or black skin, two horns on its head, a wide mouth filled with fangs, and wearing nothing but a tigerskin loincloth.It often carries an iron kanabo or a giant sword.t carries the meanings of monster, ghost, or spirit, and the literal meaning is the spirit of a thing or strange thing. This word is used to blame any unexplainable event on, and both inanimate objects and spirits of humans and other creatures can be called mononoke.
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Onchocerciasis Onchocerciasis, also known as river blindness and Robles disease, is a disease caused by infection with the parasitic worm Onchocerca volvulus. Symptoms include severe itching, bumps under the skin, and blindness. It is the second most common cause of blindness due to infection, after trachoma. The parasite worm is spread by the bites of a black fly of the Simulium type.
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Causes of Ondine's curse List of causes of Ondine's curse. Following is a list of causes or underlying conditions (see also Misdiagnosis of underlying causes of Ondine's curse) that could possibly cause Ondine's curse includes: Persons who have CCHS get it at birth, or develop it due to severe neurological trauma/damage to the brainstem.
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British Boy Can't Fall Asleep Without Fear of Dying Ondine's Curse is actually a misnomer, probably to to sell newspapers, and does not adequately describe children like Liam, according to Dr. Mark Dyken, a neurologist and director of the Sleep Disorders Center at the University of Iowa.
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Chilblains Chilblains (/ˈtʃɪlbleɪnz/) — also known as pernio and perniosis — is a medical condition that occurs when a predisposed individual is exposed to cold and humidity, causing tissue damage. It is often confused with frostbite and trench foot. Damage to capillary beds in the skin causes redness, itching, inflammation, and sometimes blisters. Chilblains can be reduced by keeping the feet and hands warm in cold weather, and avoiding extreme temperature changes. Chilblains can be idiopathic (spontaneous and unrelated to another disease), but may also be a manifestation of another serious medical condition that needs to be investigated.
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Darier's disease Darier's disease (DAR), also known as Darier disease, Darier–White disease, Dyskeratosis follicularis and Keratosis follicularis, is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier.Darier's is characterized by dark crusty patches on the skin, sometimes containing pus.haracteristics [edit]. Darier disease affects both men and women and is not contagious. The disease often starts during or later than the teenage years, typically by the third decade. Short stature is common.
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- Onchocerciasis, or River Blindness, is a neglected tropical disease (NTD) caused by the parasitic worm Onchocerca volvulus. It is transmitted through repeated bites by blackflies of the genus Simulium.
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What is Onchocerciasis (River Blindness)? Onchocerciasis is a skin and eye disease caused by the parasitic worm, Onchocerca volvulus. The infection is spread by blackflies that breed in fast-flowing water, giving it the common name “river blindness.” Onchocerciasis is the second leading cause of infectious blindness worldwide.
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Genetic Diseases Can`t Be Cured In a family with sickle-cell anemia and PKU, each child has a 25 percent risk of inheriting. No genetic illness can be cured. Hemophiliacs can inject clotting factors, and people with PKU can adjust their diet, but they can never get rid of their genes. The best way to deal with genetic disorders is to prevent them through screening. Simple blood tests can detect the gene for sickle-cell anemia.
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SINGLE-GENE DISORDER Single gene disorder is disease or disorder that is due to the effect on mutated gene. These disorders are quite rare and examples are Huntington's disease and sickle cell disease.SINGLE-GENE DISORDER: In a single gene disorder the mutation causes a failure to synthesise a functioning enzyme..ingle gene disorder is disease or disorder that is due to the effect on mutated gene. These disorders are quite rare and examples are Huntington's disease and sickle cell disease.
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Central hypoventilation syndrome Ondine's Curse is associated with respiratory arrests. during sleep and, with incomplete penetrance, neuroblastoma (tumours of the sympathetic ganglia), Hirschsprung disease (partial agenesis of the enteric. nervous system), dysphagia (difficulty swallowing), anomalies of the pupilla, etc.
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- Phenylketonuria (PKU) is an inherited disease that affects the breakdown of protein. High levels of the amino acid phenylalanine in the blood damage the nervous system and can also lead to mental handicap. Newborn babies with PKU are given a special diet low in phenylalanine.
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Sickle-cell disease Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.The major function of bone marrow is to produce new blood cells.anconi anemia is most often inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
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Osteonecrosis of the Jaw Osteonecrosis of the jaw (ONJ) is an oral disorder that involves exposure of the jaw bone. 1  ONJ can occur after tooth extraction, injury, radiation therapy, or for no apparent reason. 2  ONJ has occurred in some people taking high doses of bisphosphonate drugs intravenously, particularly if they have cancer or undergo oral surgery.