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What are the symptoms of Myelodysplastic Syndrome MDS?
Signs and symptoms of Myelodysplatic Syndrome are anemia, increased susceptibility to infection, increased bleeding and bruising. Some people show no symptoms at all.
How many people have tourette syndrome in the world?
They estimate that about 200,000 Americans have a severe form of Tourette Syndrome. About 1 in 100 children show mild symptoms.
What have studies demonstrated about men who are carriers of the fragile X gene?
may begin to show signs of tremor disorder, gait instability and memory impairment as they age. The higher prevalence of these symptoms among grandfathers of children with fragile x syndrome was noted
Does Annie Lennox have Aspergers Syndrome?
No, Annie Lennox doesn't have Asperger Syndrome. Annie Lennox doesn't show any outward signs of Autism - although women on the spectrum often hide their symptoms.
How is tourette syndrome inherited?
by genetics. if you carry the gene you have a 50 percent chance of showing signs. boys are more likely to show symptoms
Is Tourette syndrome inherited?
by genetics. if you carry the gene you have a 50 percent chance of showing signs. boys are more likely to show symptoms
If you have Andersen's syndrome what are the chances that your two children will have it?
Andersen's syndrome is usually inherited in an autosomal dominant fashion. This means that EACH child of a person with Andersen's syndrome will have a 50% chance of inheriting the gene associated with the syndrome. However, not all people who inherit the gene will show symptoms of the syndrome. Children of people affected with Andersen's syndrome should be evaluated by a qualified physician to determine risk.
What are symptoms of sick sinus syndrome?
Sick sinus syndrome is a disorder of the sinus node of the heart, which regulates heartbeat. With sick sinus syndrome, the sinus node fails to signal properly, resulting in changes in the heart rate.
What is the chance of passing Rett syndrome on to a child?
According to the Rett syndrome association (a UK charity), Rett syndrome is caused by a random genetic mutation and is not hereditary. As such it cannot be passed onto your child.Please see the related link.It is highly unlikely but is possible to have Rett syndrome and due to X inactivation not show any symptoms. Therefore, you could pass on the same mutation/deletion to your daughter who may show symptoms even though you do not. Again, highly unlikely.
Morquio syndrome?
DefinitionMorquio syndrome is an inherited disease of metabolism in which the body is missing or doesn't have enough of a substance needed to break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS IV.See also:MPS I H (Hurler syndrome)MPS II, Hunter syndromeMPS III (Sanfilippo syndrome)MPS I S (Scheie syndrome)Alternative NamesMucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; Beta galactosidase deficiency; MPS IVCauses, incidence, and risk factorsMorquio syndrome is an autosomal recessive trait. That means both your parents must pass you the defective gene in order for you to get this disease.There are two forms of Morquio syndrome: Type A and Type B.Persons with Type A do not have a substance (enzyme) called galactosamine-6-sulfatase.Persons with Type B do not produce enough of an enzyme called beta-galactosidase.The body needs these enzymes to break down a long strand of sugar molecules called the keratan sulfate sugar chain. In both types, abnormally large amounts of glycosaminoglycans build up in the body and brain, which can damage organs.The syndrome is estimated to occur in 1 of every 200,000 births. Symptoms usually start between ages 1 and 3. A family history of the syndrome raises one's risk for the condition.SymptomsAbnormal development of bones, including the spineBell-shaped chest with ribs flared out at the bottomCoarse facial featuresHypermobile jointsKnock-kneesLarge head (macrocephaly)Short staturewith a particularly short trunkWidely spaced teethSigns and testsThe doctor will perform a physical examination. Examination and testing may reveal:Abnormal curvature of the spine (kyphoscoliosis)Cloudy corneaHeart murmur (aortic regurgitation)Inguinal herniaLiver enlargementLoss of nerve function below the neckShort stature (especially short trunk)Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can't determine the specific form of MPS.Other tests may include:Blood cultureEchocardiogramGenetic testingHearing testSlit-lamp eye examSkin fibroblast cultureX-rays of the long bones, ribs, and spinePersons with Morquio syndrome should have MRI of the lower skull and upper neck to determine if the upper vertebrae are underdeveloped.TreatmentThere is no specific treatment for Morquio syndrome. Symptoms are treated as they occur.A spinal fusion may prevent irreversible spinal cord injury in persons whose neck bones are underdeveloped.Support GroupsNational MPS Society --www.mpssociety.orgExpectations (prognosis)Cognitive (thinking) function is usually normal in patients with Morquio syndrome.Bone problems can lead to significant complications. For example, the small bones at the top of the neck may slip and damage the spinal cord, causing paralysis. Surgery to correct such problems should be done if possible.Heart (cardiac) complications may lead to death.ComplicationsBreathing problemsHeart failureSpinal cord damage and possible paralysisVision problemsWalking problems related to abnormal curvature of the spine and other bone problemsCalling your health care providerCall your health care provider if symptoms of Morquio syndrome occur.PreventionGenetic counseling is recommended for prospective parents with a family history of Morquio syndrome. Counseling is also recommended for families who have a child with Morquio syndrome, to help them understand the condition and possible treatments.ReferencesNational Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.
Does prader-willi-syndrome affect you immediatley when you are born or does symptoms show up later in adulthood?
It often has 2 stages - difficulty at birth due to hypotonia, followed by the onset of hunger and other symptoms at between 1 and 4 years of age.
During which portion of the infection cycle shown in the diagram does the host begin to show symptoms of viral infection?
Symptoms of viral infection typically begin during the replication and spread phase of the infection cycle, when the virus has replicated enough to start causing damage to the host cells and triggering immune responses that lead to symptoms.
