Doctor insights on:
Is Sarcoidosis A Genetic Disease Will My Children Get It
Family sarcoid: It is not likely that you would give your children sarcoid, however your inherited immune system may make it more likely. The statistics show about a 16%increase of sarcoid in family. Sarcoid has an unknown cause.Some ideas have been, bacteria in the environment-but scientists have not isolated it; or chemicals in the environment-more common on rural areas, fields/ farmers, health care, & teachers. ...Read moreSee 2 more doctor answers
A genetic disease is a disease that is caused by a defect in the genetic (dna) material in a gene(s). It can be inherited and mosy pose a risk to other family members and/or to future children. For many genetic diseases there are molecular tests that allow detection of a change(s) called mutations, we can also detect deltions or other changes to the gene's dna that can also result ...Read more
Where did tay-sach originated from? From what organism or plant do people get this disease? I know this is a genetic disease but how did it become a genetic disease?
Human : Human genetic diseases arise because of mutations in the genetic information carried in the reproductive cells (eggs and sperm or the cells that make them). Genetic information is stored in the complex molecule called dna, which has properties that allow it to be copied, kind of like the way a computer disk can be copied. Dna contains information packed into functional units called genes, which behave like individual computer programs, and often create proteins that contribute to the machinery of the cells that make up our bodies. Just like the way the information on a computer disk can become corrupted when it is stored over time (imagine a cd or dvd exposed to sun, scratches, or dust) or when it is being copied, the information stored in dna can be corrupted either when stored or when copied. This is called a mutation. Some mutations can produce machinery that doesn't work at all, and some mutations produce machinery with properties that are different than those of the original gene. Tay sachs disease (also called hexosaminidase a deficiency) is caused by a mutation in the hexa gene that makes the machine (or enzyme) called hexosaminidase a. When it is not mutated, this enzyme helps to break down complicated sugar-like molecules in human cells. The mutation that causes tay sachs disease makes a non-working enzyme. The sugar-like molecules build up in cells, and lead to serious problems. (children with tay sachs disease may die by the age of 4.) every human cell has two copies of just about every gene. One copy is from the father, and one copy is from the mother. If you get a mutated hexa gene from one parent, and a normal hexa gene from the other parent, the normal gene will make working hexosasminidase a, and you will be able to break down those sugars... So you won't die... So you may live to pass your genes on to your children. When parent passes on genes to a child, only one of the two copies is passed. (if this didn't happen, then each generation would have twice as many genes as their parents.) so, a parent with one good copy and one bad copy of a gene, has about a 50:50 chance of passing the bad gene on to a child. To get tay sachs disease, a child has to get two bad copies of the hexa gene. One from each parent. ...Read moreSee 1 more doctor answer
How do people get anorexia? Is it a genetic disease? If you want to be anorexic and act as one would, will you become anorexic?
Anorexia nervosa: Excuse me -- why would you want a deadly illness? Anorexia nervosa does show genetic transmission; it is not complete, but studies with twins show that it's highly heritable. Others can develop it too, but people with this illness suffer and cause their families and significant others suffering too. Please consult a psychiatrist about your desire for self-harm. ...Read moreSee 1 more doctor answer
What happens when a male with an x linked recessive genetic disorder has children with a female who does not carry the disease?
No disease, but...: The scenario you describe would result in a male infant being totally normal, while a female infant would be a carrier that would most likely be unaffected, given that the mutation is recessive. Depending on the actual disease, it is theoretically possible for the female infant to have mild symptoms, since one x chromosome in each cell gets randomly shut down (lyonization). ...Read more
It could be a cause: Causes of hypopituitarism can directly affect the pituitary gland or indirectly through the hypothalamus, which in turn affects the pituitary gland. Causes of hypopituitarism, of which there are many, includes sarcoidosis - a rare inflammation of the lymph nodes and other tissues throughout the body. ...Read more
Too broad a topic: There are books written on the topic.If there is a critical enzyme pathway in the body there is likely a defect somewhere in that pathway. State screening tests commonly look for > 25 different ones. ...Read more
My sister died of a rare genetic disorder that I am a carrier for; should I be worried about having children?
In august my baby pasted away from an genetic disorder if i had another child could it happen again I have 5 other living children 3 with different fathers nothing wrong with them then I have my last 3 by the same father which sad to say my little girl wa
Recommend evaluation: I am sorry for your loss. The risk of it happening again depends on what your child had, whether either parent could be a carrier. Sometimes risk is very low, close to zero% (if genetic condition happened in the baby for the first time), 25% if both parents carriers of a condition, or other risk depending on the condition. I would recommend formal genetic evaluation and counseling. ...Read moreSee 1 more doctor answer
Is there a genetic disorder that runs in male genes that can be mistaken for adhd? My 4 yr. Son is very hyper, cries alot, and abusive toward some children and me. The ADHD medicine isn't working. Now he has been scratching his face when he gets mad. What
ADHD : Adhd can be difficult to diagnose in a 4 year old. His behavior problems may be caused by something else. It sounds like he needs further evaluation to see how he can be helped. Traits similar to those found in adhd can be seen in some of the autistic spectrum disorders that can be more prevalent in males. His unresponsiveness to some medications can give clues as to what may be causing his difficult behavior as well. It's interesting that you have noted that the aggressive behavior is only in the males and during their childhood. I'm glad the traits went away as these boys grew up. Don't give up, but seek further evaluation and have your pediatrician guide you toward the specialists in your area. ...Read moreSee 1 more doctor answer
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
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