Doctor insights on:
Medicine For Hereditary Lysosomal Storage Diseases
What are the causes of bipolar affective disorder? Is it hereditary, or due to hormones, or drugs, or what else?
Bipolar: Think of term bio-psycho-social. Biological is inheritance or induced by physical illnesses or medications. Psychological is relation to early traumas or self-concept issues. Social is support system or lack of. ...Read more
I was prescribed topomax 15mg. For a hereditary nervous disorder but have now have a strong low back pain. Have stopped capsules. Is drug cause of pai?
There are very many genetic or inherited diseases. Many have variable penetrance meaning degree of symptoms can vary greatly.
We all have many genetically inherited single nucleotide polymorphisms or SNP's that may cause or contribute to disease. Diseases related to these can present at any age. ...Read more
Autosomal recessive: Hurler syndrome (mucopolysaccharidosis type i) is a genetic condition. It is inherited in an autosomal recessive way. It means that both copies of the gene of a patient have a mutation (we have 2 copies of each gene, one from each parent). Parents of a patient each carry one copy of the mutated gene, and another healthy copy so they typically do not show signs and symptoms of the condition. ...Read more
They are synonyms: Congenital and hereditary essentially mean the same thing. ...Read more
Sex-linked: Way too long a list for this short format. So-called x-linked disorders (hemophilias, color-blindness) are generally inherited (expressed) in male offspring, while female offspring are carriers. Is there a specific disorder you are interested in? ...Read more
Yes: A coagulation defect changed world history. Queen Victoria passed it to her daughter Alice, who in turn passed it to Alexandra, wife of Czar Nicholas, whose son Alexii was a bleeder--and they fell under the influence of Rasputin, ignoring the affairs of state. Carrier women are not affected; their normal factor VIII gene on their other X-chromosome makes up for the abnormal gene. ...Read more
Sometimes: Some cases are due to a mutation carried by the mother. Most are due to spontaneous mutations or epigenetic events in the fertilized egg. So, the risk of Angelman may be inherited, but the disease may be genetic or due to epigenetic factors. It is one of the most complex genetic mechanisms yet discovered, and a clinical geneticist must analyze whether other family members are at up to 50% risk ...Read moreSee 1 more doctor answer
Wilson's disease: Check out http://www.Mayoclinic.Com/health/wilsons-disease/ds00411 for info re wilson's disease which is autosomal recessive cause of excess copper. Both Penicillamine & trientine are used to chelate & remove excess copper. There's no best drug for everyone but rather a best drug for you. Talk to your doc about what's available to you, what's affordable, and what side effects are tolerable to you. ...Read more
Depends on disease: There are thousands of genetic and inherited diseases and also modes of inheritance. While one's genes cannot be changed, there are therapies nowadays for some genetic disorders targeted spefically for that disorders. If you think you may have a genetic disorder i would suggest seeing a clinical geneticist or a genetic counselor who can evaluate you or your family. ...Read more
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