Doctor insights on:
Can Menkes Disease Kill You
Many symptoms: Menkes disease also called menkes syndrome, copper transport disease (decreased copper), kinky hair disease. It is x linked recessive more common in males with growth failure, & deterioration of the nervous system, seizures, failure to thrive & subnormal body temperature.Arteries in the brain can also be coiled with infarcts and hemorrhages. Bones demineralized with fractues.Early death pneumonia. ...Read more
Can menkes disease or syndrome show later in life? Can It unnoticed until adulthood? Is this possible? Are you always born with it?
Yes, Yes and Yes: Depending on the nature and degree of aberrant functioning of the gene ATP7A, responsible for copper transport and absorption, one can have classic Menkes disease in childhood, a variant now called Occipital Horn Disease in young adulthood or distal motor neuropathy in mid life. Most of the time the clinical picture does not vary within a family but sometimes it can. For a more detailed discussion of this very compl;ex matter, please schedule a virtual consult. Do consider chromosomal microarray testing and genetic counseling. This gene is X linked so the disease cannot be passed from the father but the gene can be passed to a daughter who will then pass it to her child 50% of the time.. ...Read more
Internet article: Menke's is a rare (1:100,000 male children) X-linked recessive disorder of Copper metabolisms. !/3 of cases are caused by new mutations on the X-Chromosome. A carrier mother's daughters will not be affected, but each male has a 1 in 2 chance. Prenatal diagnosis is possible. Anyone suspected should be referred to a clinical geneticist. See http://ghr.nlm.nih.gov/condition/menkes-syndrom ...Read more
Can a child still have menkes disease if genetic test was negative but had low copper and ceralplasmin?
Your query piqued my: interest, so I researched it. Yes, there are different molecular genetic methods to diagnose Menke's Syndrome. Ask your child's doctors to contact the MD who has confirmed a genetic defect in the ATP7A gene on Xq21.1 in 94% of cases he's seen: Stephen G Kaler, MD, MPH Head, Unit on Human Copper Metabolism National Institutes of Health Rockville, Maryland firstname.lastname@example.org ...Read more
Its possible: Most hodgkin's disease patients are cured. It depends on the stage of the disease. Even advanced stages have 70 percent cure rates. The disease is very sensitive to chemotherapy and radiation and therefore cure rates are high. But not 100 percent and some patients do recur and despite aggressive treatment like bone marrow transplant for recurred patients some people do die of the disease. ...Read moreSee 1 more doctor answer
Yes: Patients (mostly children) often die in third world countries from diarrheal diseases, not because of the infection but because of the dehydration caused by the diarrhea and poor access to clean drinking water. Without proper hydration, the organs shut down especially the kidneys and brain. With electrolyte abnormalities, it is possible to have abnormal heart rhythms which can lead to death. ...Read more
Organ failure.: Erdheim-chester disease is a rare disorder in which cells called histiocytes accumulate in the loose connective tissue of the organs. It causes the tissues to become thick, dense and fibrotic. The disease is debilitating. Death results, if not properly treated, from organ failures. ...Read more
Decades: Most patients with huntington's disease develop symptoms in their 40's or 50's, although for some it is much earlier or later. Once symptoms are present the disease course is somewhat unpredictable, but most patients will survive for many years. Here is a site with resources regarding this disease: www.Hdsa.Org. ...Read more
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