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Doctor insights on: Besnier Boeck Schaumann Disease

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Hello docs, is Alzheimer's a genetic disease?

Hello docs, is Alzheimer's a genetic disease?

Sometimes: Those with a 1st degree relative have 3x increased risk for developing ad.There are also familial forms of ad due to genes passed on, usually these fads present in patients earlier in the 40s or 50s. Of course , the most common population to be affected are the elderly- and then there is a genetic predisposition to develop the illness. ...Read more

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Is tourettes a demyelinating disease?

Is tourettes a demyelinating disease?

No: Tourette's is not classified with diseases such as multiple sclerosis, and is a very different disorder. Such problems as visual loss, weakness, imbalance or incoordination would not be part of tourette's. Nice that we have effective ms meds these days, and many new meds work very well for tourette's. ...Read more

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Is paget's disease genetic?

Is paget's disease genetic?

Sometimes: There are two diseases termed "paget's disease." one is a rare type of breast cancer with unknown, likely multifactorial, etiology. The other is paget's disease of the bone for which there is a genetic predisposition and exposure to certain viruses may trigger the disease. Here's a link to more info about pagets of the bone: http://www.Mayoclinic.Com/health/pagets-disease-of-bone/ds00485. ...Read more

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Is pku and huntington disease the same disease entity?

Is pku and huntington disease the same disease entity?

Some comments: Pku is a problem with children and this needs early diagnosis to prevent profound complications. Huntington's chorea is an autosomal dominant disorder occurring later in life, and is relatively rare, but genetic counseling might be valuable. Neither disorder has any relationship to the other. ...Read more

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Is scoliosis a autoimmune disease?

Is scoliosis a autoimmune disease?

No: Scoliosis, or an abnormal curvature of the spine, is often congenital (you are born with it) but never autoimmune. ...Read more

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Help docs, is hanhart syndrome a genetic disease?

Hanhart syndrome: Hanhart syndrome is a rare birth defect which is believed to be sporadic. Currently, there is no known associated gene. ...Read more

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What is neimann pick disease?

What is neimann pick disease?

N-P Disease: Niemann–pick disease refers to a group of fatal inherited metabolic disorders. This disease is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases (lsds). ...Read more

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Is hemangioma a hereditary disease?

Is hemangioma a hereditary disease?

Sometimes: Many people have hemangiomas without a family history. Occasional hemangiomas can occur genetically and may be isolated or multiple lesions and rare conditions can also involve internal organs. ...Read more

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Is Marfan syndrome a sex-linked disease?

Is Marfan syndrome a sex-linked disease?

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl. ...Read more

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Is extramammary paget's disease a cancer or pre-cancer condition?

Is extramammary paget's disease a cancer or pre-cancer condition?

Yes: As soon as it invades, which it often never does, it's a full-fledged cancer. Sometimes the cancer precedes it and grows into the epidermis. It's serious and needs to be cared for by a capable specialist. ...Read more

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Is hutchinson's disease cancer?

Is hutchinson's disease cancer?

No: Hutchinson's disease is also known as sarcoidosis. This is a specific form of inflammation of the tissues in the body. Almsot any tissues can be affected, but the two most common organs affected are lungs and lymph nodes. The cause is not known. However, this is not considered a cancer. ...Read more

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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What's the difference between lou gehrig's disease and kennedy disease?

What's the difference between lou gehrig's disease and kennedy disease?

A lot: Lou gehrig's is als, and is much faster in progression. Only about 10% of ALS cases are genetic. Kennedy's disease is genetic, and slower to progress. They can overlap initially, but the disease course is much different. ...Read more

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Is there a genetics connection von hippel-lindau disease?

Is there a genetics connection von hippel-lindau disease?

Von Hippel-Lindau: Von hippel-lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von hippel-lindau syndrome can occur throughout life. ...Read more

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I'm not sure but is huntington's disease a congenital disease?

Huntington's disease: Huntington's disease is transmitted by a genetic defect, if the parents are carrying the gene defect then it can be transmitted. ...Read more

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Is devic's disease (nmo - neuromyelitis optica) a common disease?

Is devic's disease (nmo - neuromyelitis optica) a common disease?

No: Devic's disease is a rare demyelinating progressive disorder causing blindness and spinal cord problems. ...Read more

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How rare is huntington's disease in grandkids?

How rare is huntington's disease in grandkids?

Huntington: The classic symptoms start after 30 depending on the number of repeats-the higher the repeats earlier age onset--but juvenile huntington start as teenager when repeats are above 55--an asymptomatic child does not mean he does not have the genetic disorder which will manifest latter--- another group of disorders huntington like start earler does not have the same genetic defect. ...Read more

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What's mucha-habermann disease?

What's mucha-habermann disease?

Skin Disorder: Mucha-habermann disease (pityriasis lichenoides et varioliformis acuta) is a rare skin disorder of the arms & trunk that is usually seen in children & young adults. ...Read more

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Neurology/ radiology.What is brain rot? Answers welcome in simple terms.Is it organic or disease?Is it neurovascular? Neurodegeneration? Toxicology?

Neurology/ radiology.What is brain rot?  Answers welcome in simple terms.Is it organic or disease?Is it neurovascular? Neurodegeneration? Toxicology?

Atrophy: Brain rot is a crude description of atrophy of the brain seen on ct or MRI scans. One can make educated guesses, based on the patient's history or exam, what the underlying problem might be. Age-related, alcohol, vascular or degenerative disease, are some potential causes. A detailed evaluation by your physician can help make the diagnosis. ...Read more

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Is osteogenesis imperfecta a curable disease?

Is osteogenesis imperfecta a curable disease?

No: It is an inherited connective tissue disease that produces "brittle bones" that results in non-traumatic fractures. It ranges from mild to lethal. There is no cure. Genetic counseling is indicated for the families. ...Read more

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