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What else can I help you with?
Can a baby get shaken baby syndrome from earthquake?
No. The type of shaking in an earthquake is not the same as the type needed to cause shaken baby syndrome.
What type of microorganism causes AIDS?
It is a virus: HIV (Human Immunodeficiency Virus).
What chromosome is affected by meckel syndrome?
Meckel Syndrome (type 1)is an autosomal recessive trait carried on chromosome 17.
Can Polyarteritis nodosa cause Churg-Strauss syndrome?
No, Polyarteritis nodosa is a condition characterized by inflammation of medium-sized arteries throughout the body, while Churg-Strauss syndrome, also known as eosinophilic granulomatosis with polyangiitis, is a type of vasculitis that primarily affects small blood vessels and is associated with high levels of eosinophils. They are distinct conditions with different underlying causes.
The type of pathogen that causes AIDS?
The pathogen that causes AIDS is the human immunodeficiency virus (HIV). It attacks the immune system, specifically CD4 T cells, and weakens the body's ability to fight infections and diseases. Without treatment, HIV can progress to AIDS (acquired immunodeficiency syndrome).
What causes Sanfilippo syndrome Type D?
caused by a deficiency in the enzyme N-acetylglucosamine-6-sulfatase, due to mutations in the GNS gene located on chromosome 12. This form of MPS III is also rare.
What is the type of mutation that causes Digeorge syndrome?
Deletion Mutation causes DiGeorges Syndrome.
What are the effects of sanfilippo syndrome?
Sanfilippo syndrome, a type of mucopolysaccharidosis, primarily affects the central nervous system, leading to progressive neurodegeneration. Symptoms typically include severe cognitive decline, behavioral issues, and loss of motor skills. Additionally, individuals may experience physical symptoms such as growth delays, skeletal deformities, and organ enlargement. The syndrome significantly impacts quality of life and typically leads to early mortality.
What treatment is effective for patients with seizures?
Seizures are a problem found in severe forms of MPS and especially in MPS III (Sanfilippo syndrome). Patients with seizures are given a type of prescription medication known as an anticonvulsant.
How common are mucopolysaccharidoses?
The MPS syndromes are considered to be rare. Sanfilippo syndrome appears to be the most common MPS with a reported incidence of one in 70,000.
When was Claire Sanfilippo born?
Claire Sanfilippo was born in 1959.
When was Sylvester Sanfilippo born?
Sylvester Sanfilippo was born in 1926.
How tall is Jason Sanfilippo?
Jason Sanfilippo is 5' 2 1/2".
When was Frank Sanfilippo born?
Frank Sanfilippo was born on 1981-09-08.
When was José Sanfilippo born?
José Sanfilippo was born on 1935-05-04.
Sanfilippo syndrome?
DefinitionSanfilippo syndrome is an inherited disease of metabolism that makes the body unable to properly 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 III.See also:MPS I H (Hurler syndrome)MPS II, Hunter syndromeMPS IV (Morquio syndrome)MPS I S (Scheie syndrome)Alternative NamesMPS IIICauses, incidence, and risk factorsSanfilippo syndrome occurs when the substances (enzymes) needed to break down the heparan sulfate sugar chain are missing or are defective.There are four main types of Sanfilippo syndrome, also called MPS III. Which type a person has depends on which enzyme is affected.Sanfilippo type A is the most severe form. Persons with this type are missing or have an altered form of an enzyme called heparan N-sulfatase.Sanfilippo type B occurs when a person is missing or doesn't not produce enough alpha-N-acetylglucosaminidase.Sanfilippo C occurs when a person is missing or doesn't not produce enough acetyl-CoAlpha-glucosaminide acetyltransferase.Sanfilippo D occurs when a person is missing or doesn't not produce enough N-acetylglucosamine 6-sulfatase.The syndrome is inherited as an autosomal recessive trait. That means both your parents must pass you the defective gene in order for you to get this disease.Sanfilippo syndrome is possibly the most common forms of MPS. It is seen in about 1 in 70,000 births. A family history of Sanfilippo syndrome increases one's risk for this condition.SymptomsUnlike other forms of MPS, symptoms appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during the first few years, but final height is below average. Delayed development is followed by deteriorating mental status.Other symptoms include:Behavioral problemsCoarse facial featuresDiarrheaFull lipsHeavy eyebrows that meet in the middle of the face above the noseSleep difficultiesStiff joints that may not extend fullyWalking problemsSigns and testsA physical exam may show signs of liver and spleen swelling. An eye exam will show clear corneas, unlike the cloudy corneas seen in persons with Hurler syndrome (MPS I H). Neurological testing will reveal signs of seizures and mental retardation.Urine tests will be done. Persons with Sanfilippo syndrome have large amounts of a mucopolysaccharide called heparan sulfate in the urine.Other tests may include:Blood cultureEchocardiogramSlit lamp eye examSkin fibroblast cultureX-rays of the bonesTreatmentThere is no specific treatment available for Sanfilippo syndrome.Support GroupsAdditional information and resources are available from the National MPS Society.Expectations (prognosis)The syndrome causes significant neurological symptoms, including severe retardation. IQs may be below 50. Most persons with Sanfilippo syndrome live into their teenage years. Some patients live longer, while others with severe forms die at an earlier age. Symptoms appear most severe in persons with type A Sanfilippo syndrome.ComplicationsBlindnessInability to care for selfMental retardationNerve damage that slowly gets worse and eventually requires wheelchair useSeizuresCalling your health care providerCall your health care provider if your child does not seem to be growing or developing normally.Call for an appointment with your health care provider if you plan to have children and you have a family history of Sanfilippo syndrome.PreventionGenetic counseling is recommended for prospective parents with a family history of Sanfilippo syndrome. Counseling is also recommended for families who have a child with Sanfilippo syndrome, to help them understand the condition and possible treatments.
When was Natalie Sanfilippo born?
Natalie Sanfilippo was born on November 5, 1976, in Milwaukee, Wisconsin, USA.
