Doctor insights on:
Familial Dysautonomia Mutation
In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more
Is dysautonima genetic? Is there any relation between autism, dysautonomia and gluten intolerance? My mom also has macrobacterium avium. Connections?
Many questions: There is familial dysautomia but uncertain about the other other associations. Some cases with gluten have been reported. Mycobacterium avium is an infectious disease and not related to the other conditions. Gluten is a different condition also. There is intolerance to gluten and treatment involves a gluten free diet. ...Read moreSee 2 more doctor answers
Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read moreSee 1 more doctor answer
Autosomal dominant: Enter omim in your browser and go to the database of all inherited diseases. Autosomal dominant means that affected individuals have one normal and one abnormal gene copy, the abnormal one dominating to cause disease. An affected person has a 50% chance to pass on the abnormal gene and fap with each pregnancy. ...Read more
Nervous system: It is a malfunctioning of the autonomic nervous syste. Dysautonomia is such a broad term that there many possible symptoms depending on which parts of the autonomic nervous system are affected. The most common symptoms are excessive thirst, excessive fatigue, dizziness or lightheadedness, rapid or slow heart rate, fainting (due to low blood pressure), and extreme anxiety that is not due to psychol. ...Read moreSee 1 more doctor answer
Autosomal Dominant: Fap is inherited in an autosomal dominant fashion. This means that if one parent has the gene, and the other parent doesn't, each child has a 50% chance of receiving the gene for fap. The disease causes hundreds of polyps to form in the colon (see the picture), leading to colon cancer. ...Read more
Yes: It is a factor XII issue which is encoded in your genome. ...Read more
Dysautonomia/Dizzy: SEE:Orthostatic intolerance without postural tachycardia: how much dysautonomia?Clin Auton Res. Aug 2013; 23(4): 181–188. Ajay K. Parsaik, Wolfgang Singer, Thomas G. Allison, David M. Sletten, Michael J. Joyner, Eduardo E. Benarroch, Phillip A. Low, and Paola Sandroni Also needs detailed history & physical examination to assess treatable causes. ...Read more
Addisions is genetic: In 2012 the answer is usually yes. Tuberculosis caused dr. Addison to describe the condition. Now it is any failure of the adrenal glands. Today it does run in families where autoimmune diseases occur. (thyroid, diabetes, adrenal, celiac, etc). ...Read moreSee 2 more doctor answers
What is hereditary non-polyposis colorectal cancer (hnpcc) vs familial adenomatous polyposis (fap)?
Both inherited: In fap presents as colonic polyps ( gardners syn will have other tumors ) , autosomal recessive due to mutations in gate keeper, tumor suppres gene. On the contrary hnpcc or lynch syndrome. Is autosomal dominant, due to dna mismatch in repair, associated with other cancers of stomach, endomet. Ca, ovary, brain, skin etc. ...Read more
I am dealing with ctd, dysautonomia and ft job. My coworkers think that I should work late hours more than my peers because they have kids and i don't. I spent saturdayin bed, recovering. They know about my condition but they say I have no kids. What shou
Starting florinef (fludrocortisone) 0.5mg 3x/week for lightheaded spells related to dysautonomia .How long before I should feel difference if it works? Side effects?
Florinef (fludrocortisone): This drug should work the first time you take it if the dose is correct. It does not work immediately in the morning but causes your body to retain more fluid over the course of the day. That is intended to help regulate your blood pressure, especially when upright. ...Read moreSee 1 more doctor answer
ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read moreSee 1 more doctor answer
Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read moreSee 1 more doctor answer
Yes: While WPW syndrome is genetic, not every patient behaves or is treated the same way. A good percentage of the WPW population will not need any treatment as they do not have fast heart rates (arrhythmias). At the other end of the spectrum however, live patients with WPW who may need ablation or possibly an icd. The proper course of action is determined by an electrophysiologist usually. ...Read moreSee 1 more doctor answer