Fabry disease affects every 1 in 40,000 -60,000 males. It occurs less frequently in females. In general population is 1 in 117,000 people. It affects all ethnicity groups.
Fabry disease is a rare hereditary disorder that’s from buildup glycolipids called GL-3 in the body’s cells, tissue, or other organs. The damage to the cells, tissues, or organs can cause a wide range of mild to severe symptoms that can be life threatening. Signs and symptoms’ may be noticed in childhood or adolescence. Many patients are diagnosed in adulthood. The average aged to be diagnosed with Fabry disease is age 29. One or both parents can carry an abnormal gene that’s passed to their children. The abnormal gene is on the X-chromosomes. Females have 2 X-chromosomes one by each parents. Males have one chromosomes inherited from their mother and one Y-chromosome by the father. Males and Female children of an affected female have 50% chance of having the gene. If the father carries one the gene all girl children will inherit the gene and males won’t. There are no known predetermining factors of Fabry disease.
Ways to know you have the disease is full body pain, abnormal cramps, frequent bowel movement, diarrhea, vomiting, rashes or blemishes on skin, cloudiness in cornea, decreased sweating, fever, and loss of appetite. Knowing that you have this illness takes a lot of determination. You have to monitor, manage, evaluate, and treat the disease. Testing available for Fabry disease is enzyme assay, it measures the amount of alpha GAL enzyme act in the blood. For females enzyme assay may not be as useful as genetic testing. Female screening is not simple. The blood test can be misleading because of the random X-inactivation. The GAL gene is more accurate tha...
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...ncy for females is 75.4 years. If diagnosed early you can receive treatment the lifespan if longer.
Patients can go to various websites for support some of the sites I’ve found Jerry’s Fabry's Disease Blog which gives you information about the disease what you should do, education about it, the basic background, community events and news, good treatment, and support. Also, NationalFabriyDisease.org is a non-profit organization that helps and reaches out to the mothers. They have family camps, the general information about Fabry's disease, an assistance program, and help you find doctors, and much more. People dealing with this disease need to take care of themselves. This means making themselves number one on their checklist. Approaching life in different ways to make less stressful on them and communicating with others is the key to managing their time and energy.
2.Normal life span is between 5-8 years; although that is increasing as the medical community ...
There is also counseling, with peer support, and support groups this can be very helpful. There are 3 support groups I found, National Adrenal Diseases Foundation, The MAGIC foundation, and the CARES foundation. All of them are focused to improve the lives of individuals with this disease.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
The disease Angelman Syndrome, named after the physician Harry Angelman, was first diagnosed in 1965. It is now known that the disease results from the loss of function of UBE3A, a gene. One is normally inherited from each parent. The copy inherited from the mother is active in certain areas of the brain. If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease. Most cases of this disease are not inherited, instead are a result of deletion in the maternal chromosome 15. Across 1. 2 copies of chromosome 15 are inherited from the father Down 1 Person who first diagnosed this disease 2 Disease the magazine is about 3 A gene 4 a minority of this disease is caused by this 5 Chromosomal rearrangement DISEASE BACKGROUND PAGE 1
Ever since the discovery of Angelman disease, studies have been conducted in order to find out how common the disease is, how to best diagnose the disease, and whom the disease affects. The most accurate data that has ever been co...
1. James suffers from a condition called Duchenne muscular dystrophy. Explain the full meaning of this name.
...rmeulen A, Kho TL; Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet. 2001 Jan 13;357(9250):138-40. Available at: http://www.ncbi.nlm.nih.gov/pubmed/11197415?dopt=Abstract Accessed 8th July 2010
Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40,000 to 60,000 have Gaucher disease or about 10,000 people worldwide (Hughes, 2013). In addition, Gaucher disease has a higher frequency among Jews of Ashkenazi (Eastern European) decent: up to 1 in 450 people.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
More men have this disease because of the way it is passed down by the chromosomes. The X chromosome is the cause of colorblindness. Since boys’ chromosomes are XY’s they only need one affected X to be affected. Since girls have two X’s and colorblindness is a recessive trait, they would need to have two affected X chromosomes, where the boy only needs one to be affected.
Angelman Syndrome is a rare genetic disorder characterized by neurological and developmental issues. Dr. Harry Angelman discovered the syndrome in 1965. It was formerly called “Happy Puppet Syndrome” due to the clinical features possessed by those affected. Dr. Angelman observed those affected as appearing normal upon birth but eventually showing signs of development disabilities. Angelman Syndrome mainly targets the nervous system and can be detected in infants as early as six months. Typically, the first noticeable sign is usually feeding problems or a delay in development. It is caused by a deletion or mutation, such as translocation, in Chromosome 15, long arm q, band 12. Some references note the affected region as bands 11.2-13. This area encodes for the UBE3A gene. Usually, the body uses information from both copies of a gene. The activity of each gene copy is dependent on whether it was passed from your mother or from your father. This parent-specific gene activity is called imprinting. In a few instances, only one copy of a gene pair is active. For the UBE3A gene, only the maternal copy is active in the brain. This is an example of genomic imprinting in which the body only recognizes or requires one copy to be active. In Angelman Syndrome, the body only recognizes the maternal copy of chromosome 15. However, there have been a few rare incidences in which uniparental disomy was the cause of acquiring the syndrome. This occurs when both copies of chromosome 15 were inherited from the paternal side.
The University of Texas MD Anderson Cancer Center states the disease is divided into two major types namely acute and chronic. The acute types of the disease are those that progress quickly and involve an overgrowth of very immature blood cells. This becomes life threatening because very few mature cells mean that the body loses its ability to prevent infection, anemia and bleeding disorders. A diagnosis of the acute type is given when the immature cells found account for 20% or more of the blood cells produced. The chronic type progress slowly and involves an overgrowth of mature blood cells. In contract to the acute type people affect by this type usually h...
symptoms between the ages of 30 and 50, but has been known to show itself in
This disorder is caused by changes in the DNA of cells that make hemoglobin, the substance in human red blood cells that carries oxygen throughout your entire body. This disease is a inheritance disorder passed from parents to children. When parents have low count of hemoglobin and high could of red blood cell it is then transferred to their new born child.