Werner syndrome
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Werner Syndrome is a rare genetic disorder caused by a mutation in the WRN gene, which encodes an enzyme involved in DNA replication and repair. It causes rapid aging beginning at puberty, with symptoms including gray hair, hair loss, cataracts, diabetes, and osteoporosis in one's 20s and 30s. Life expectancy is typically around 48 years of age due to increased cancer risk. It most commonly affects 1 in 200,000 individuals in the US and 1 in 20,000-40,000 individuals in Japan.
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Werner syndrome
Werner syndrome is a rare, autosomal recessive progeroid syndrome characterized by premature aging symptoms. It causes growth retardation, premature graying of hair, wrinkling of skin, abnormal fat deposition, skin atrophy, skin ulceration, infertility, arteriosclerosis, calcinosis, atherosclerosis, diabetes mellitus, and telangiectasia. It is caused by mutations in the WRN gene which encodes a protein involved in DNA repair. While there is no cure for Werner syndrome, vitamin C supplementation in mice showed benefits and patients are treated based on symptoms to increase lifespan and quality of life.
Werners Syndrome
Werner syndrome is a rare genetic disorder characterized by premature aging symptoms beginning in early adulthood such as graying hair, a thin body build, and bird-like facial features. It is caused by mutations in the WRN gene and inherited in an autosomal recessive pattern. People with Werner syndrome typically die of heart disease or cancer in their late 40s or early 50s as their bodies age at an accelerated rate. There is no cure for Werner syndrome, but managing health conditions like diabetes and monitoring cholesterol levels is recommended.
Werner's syndrome
Werner syndrome is a rare genetic disorder characterized by features of premature aging. People with Werner syndrome begin showing signs of aging, such as graying hair and a wrinkled face, in their 20s. They typically develop diseases associated with old age at an early age as well, such as cataracts, skin ulcers, diabetes, and hardening of the arteries. Werner syndrome is inherited in an autosomal recessive pattern requiring mutations in both copies of the WRN gene. People with Werner syndrome have a reduced life expectancy and usually live into their late 40s or early 50s, with cancer and heart disease being common causes of death. There is no cure for Werner syndrome, but monitoring for and
Werners Syndrome
Werner syndrome is a rare genetic disorder that causes accelerated aging beginning in early adulthood. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive pattern. Physical symptoms include short stature, gray hair, cataracts, skin aging, and increased risk of cancers and heart disease. There is no treatment to stop or reverse the effects of Werner syndrome, but symptoms can be managed.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
Xeroderma Pigmentosum
Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by extreme sun sensitivity which leads to severe sunburn and early development of skin cancers. It is caused by mutations that result in defective DNA repair mechanisms, specifically nucleotide excision repair. Patients have a mutation in one of several genes responsible for this repair pathway. This leads to inability to repair UV damage to DNA. The condition is inherited in an autosomal recessive pattern. Diagnosis is based on clinical features of severe sun sensitivity and predisposition to skin cancers, and can be confirmed via genetic testing. Prognosis is poor as many patients die of skin cancers at a young age, though some with less severe forms may survive into middle age with
Genetic screening & gene therapy
Genetic screening and gene therapy can detect and treat genetic disorders. Genetic screening techniques like carrier screening, newborn screening, and prenatal diagnosis identify genetic risks. Gene therapy aims to treat diseases by replacing faulty genes, such as inserting functional genes into somatic cells. While promising, gene therapy faces challenges like safety concerns over viral vectors and ensuring proper expression of inserted genes. Genetic counseling educates patients on genetic risks and testing options.
Marfan syndrome
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
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Werner syndrome
Werner syndrome is a rare, autosomal recessive progeroid syndrome characterized by premature aging symptoms. It causes growth retardation, premature graying of hair, wrinkling of skin, abnormal fat deposition, skin atrophy, skin ulceration, infertility, arteriosclerosis, calcinosis, atherosclerosis, diabetes mellitus, and telangiectasia. It is caused by mutations in the WRN gene which encodes a protein involved in DNA repair. While there is no cure for Werner syndrome, vitamin C supplementation in mice showed benefits and patients are treated based on symptoms to increase lifespan and quality of life.
Werners Syndrome
Werner syndrome is a rare genetic disorder characterized by premature aging symptoms beginning in early adulthood such as graying hair, a thin body build, and bird-like facial features. It is caused by mutations in the WRN gene and inherited in an autosomal recessive pattern. People with Werner syndrome typically die of heart disease or cancer in their late 40s or early 50s as their bodies age at an accelerated rate. There is no cure for Werner syndrome, but managing health conditions like diabetes and monitoring cholesterol levels is recommended.
Werner's syndrome
Werner syndrome is a rare genetic disorder characterized by features of premature aging. People with Werner syndrome begin showing signs of aging, such as graying hair and a wrinkled face, in their 20s. They typically develop diseases associated with old age at an early age as well, such as cataracts, skin ulcers, diabetes, and hardening of the arteries. Werner syndrome is inherited in an autosomal recessive pattern requiring mutations in both copies of the WRN gene. People with Werner syndrome have a reduced life expectancy and usually live into their late 40s or early 50s, with cancer and heart disease being common causes of death. There is no cure for Werner syndrome, but monitoring for and
Werners Syndrome
Werner syndrome is a rare genetic disorder that causes accelerated aging beginning in early adulthood. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive pattern. Physical symptoms include short stature, gray hair, cataracts, skin aging, and increased risk of cancers and heart disease. There is no treatment to stop or reverse the effects of Werner syndrome, but symptoms can be managed.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
Xeroderma Pigmentosum
Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by extreme sun sensitivity which leads to severe sunburn and early development of skin cancers. It is caused by mutations that result in defective DNA repair mechanisms, specifically nucleotide excision repair. Patients have a mutation in one of several genes responsible for this repair pathway. This leads to inability to repair UV damage to DNA. The condition is inherited in an autosomal recessive pattern. Diagnosis is based on clinical features of severe sun sensitivity and predisposition to skin cancers, and can be confirmed via genetic testing. Prognosis is poor as many patients die of skin cancers at a young age, though some with less severe forms may survive into middle age with
Genetic screening & gene therapy
Genetic screening and gene therapy can detect and treat genetic disorders. Genetic screening techniques like carrier screening, newborn screening, and prenatal diagnosis identify genetic risks. Gene therapy aims to treat diseases by replacing faulty genes, such as inserting functional genes into somatic cells. While promising, gene therapy faces challenges like safety concerns over viral vectors and ensuring proper expression of inserted genes. Genetic counseling educates patients on genetic risks and testing options.
Marfan syndrome
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
Williams Syndrome
Williams Syndrome is a genetic disorder caused by a deletion of genetic material on chromosome 7, including the elastin gene. This affects connective tissues and can cause heart defects, unusual facial features, and developmental delays. Doctors diagnose it based on symptoms, and use a technique called FISH to confirm the diagnosis by fluorescent labeling of the missing elastin gene. There is no cure, and life-long treatment and monitoring is required to manage symptoms. Support groups provide resources for individuals and families affected by Williams Syndrome.
Fanconi anemia
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Klinefelter Syndrome
Klinefelter syndrome is a genetic disorder that affects males, occurring when a boy is born with one or more extra X chromosomes. It affects about 1 in 1000 males. The condition was first identified in 1942 and involves small testes, infertility and other issues. Diagnosis involves hormone testing and chromosome analysis showing 47,XXY karyotype in most cases. Symptoms may include language delays, tall stature, and breast development at puberty. Treatment focuses on testosterone therapy, fertility options, and addressing physical and psychological issues.
Autosomal recessive inheritance
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This document provides an overview of genetics and genetic diseases. It discusses the history of genetics beginning with Gregor Mendel and the discovery of genes and chromosomes. It describes DNA structure and the processes of replication, transcription, and translation. It explains different types of gene mutations and chromosomal abnormalities that can cause genetic diseases. Specific genetic diseases are discussed like Down syndrome, Turner syndrome, and Klinefelter syndrome. The document also covers inheritance patterns, genetic testing, and multifactorial diseases.
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Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
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Turner syndrome presentation last
Turner syndrome is caused by complete or partial monosomy of the X chromosome in females. It is characterized by short stature, infertility, and other physical traits. The document discusses the history and genetics of Turner syndrome, including that the most common karyotype is 45,X and variants involve an isochromosome or ring chromosome. Phenotypic features can range from mild to severe and include lymphedema, heart and kidney problems, learning disabilities, and infertility. Prenatal diagnoses are now possible by ultrasound abnormalities or amniocentesis. Treatment focuses on growth hormone, estrogen therapy, and managing associated health issues.
Turner syndrome
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
Gaucher Disease
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Klinefelter syndrome
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
DiGeorge Syndrome
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Turner syndrome
Turner syndrome is a genetic condition where a female is missing an X chromosome. It was discovered by Henry Turner in 1938. Common symptoms include short stature, swollen hands and feet at birth, and issues developing menstrual periods and breasts without hormone treatment. Those with Turner syndrome also often have heart defects, diabetes, and vision or hearing problems. While there is no cure, treatment can help increase height and promote breast and hip development. Turner syndrome occurs in about 1 in 2000 to 1 in 5000 females and is usually not inherited from parents.
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Marfan syndrome andrew
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EDWARD SYNDROME
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
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Bloom syndrome 1
Brittany and her family recently moved from Florida to Toronto after Brittany was diagnosed with Bloom Syndrome. This has caused changes for Brittany including missing her friends and feeling sad about the move. Her brother is also having difficulties adjusting and acting out. As Brittany will be joining the author's preschool class, modifications will need to be made to the physical environment, teaching strategies, and inclusion of Brittany as part of the larger group to help meet her needs related to Bloom Syndrome. The author also discusses connecting Brittany's family to local resources and agencies to help support them as newcomers to the city.
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Williams Syndrome is a genetic disorder caused by a deletion of genetic material on chromosome 7, including the elastin gene. This affects connective tissues and can cause heart defects, unusual facial features, and developmental delays. Doctors diagnose it based on symptoms, and use a technique called FISH to confirm the diagnosis by fluorescent labeling of the missing elastin gene. There is no cure, and life-long treatment and monitoring is required to manage symptoms. Support groups provide resources for individuals and families affected by Williams Syndrome.
Fanconi anemia
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Klinefelter Syndrome
Klinefelter syndrome is a genetic disorder that affects males, occurring when a boy is born with one or more extra X chromosomes. It affects about 1 in 1000 males. The condition was first identified in 1942 and involves small testes, infertility and other issues. Diagnosis involves hormone testing and chromosome analysis showing 47,XXY karyotype in most cases. Symptoms may include language delays, tall stature, and breast development at puberty. Treatment focuses on testosterone therapy, fertility options, and addressing physical and psychological issues.
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summary of Autosomal recessive inheritance for health science students ...
By Abdoulwahab Mahdi Ali (Student)
Genes & Genetic Disease
This document provides an overview of genetics and genetic diseases. It discusses the history of genetics beginning with Gregor Mendel and the discovery of genes and chromosomes. It describes DNA structure and the processes of replication, transcription, and translation. It explains different types of gene mutations and chromosomal abnormalities that can cause genetic diseases. Specific genetic diseases are discussed like Down syndrome, Turner syndrome, and Klinefelter syndrome. The document also covers inheritance patterns, genetic testing, and multifactorial diseases.
Multifactorial disorders
Multifactorial disorders are caused by multiple genes interacting with environmental factors, with each factor making a small contribution. Common multifactorial disorders include asthma, autoimmune diseases, cancers, cardiovascular diseases, diabetes, and mood disorders. The risk of developing a multifactorial disorder is influenced by family history and other genetic and environmental risk factors. Treatment depends on the specific disorder but may include controlling environmental triggers, medication, and lifestyle changes.
Fragile X syndrome
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
Prader willi syndrome
Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
Turner syndrome presentation last
Turner syndrome is caused by complete or partial monosomy of the X chromosome in females. It is characterized by short stature, infertility, and other physical traits. The document discusses the history and genetics of Turner syndrome, including that the most common karyotype is 45,X and variants involve an isochromosome or ring chromosome. Phenotypic features can range from mild to severe and include lymphedema, heart and kidney problems, learning disabilities, and infertility. Prenatal diagnoses are now possible by ultrasound abnormalities or amniocentesis. Treatment focuses on growth hormone, estrogen therapy, and managing associated health issues.
Turner syndrome
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
Gaucher Disease
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
Klinefelter syndrome
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
DiGeorge Syndrome
DiGeorge Syndrome is a primary immunodeficiency disease associated with susceptibility to infections. It is caused by abnormal cell development during fetal growth that can affect the immune system, facial features, glands, and organs like the heart. Symptoms vary depending on which organs are affected but often include infections, heart defects, and low calcium levels. Diagnosis is usually at birth based on multiple symptoms. Treatment is personalized and may include antibiotics, surgery, bone marrow transplant, or close monitoring depending on severity and organs involved.
Turner syndrome
Turner syndrome is a genetic condition where a female is missing an X chromosome. It was discovered by Henry Turner in 1938. Common symptoms include short stature, swollen hands and feet at birth, and issues developing menstrual periods and breasts without hormone treatment. Those with Turner syndrome also often have heart defects, diabetes, and vision or hearing problems. While there is no cure, treatment can help increase height and promote breast and hip development. Turner syndrome occurs in about 1 in 2000 to 1 in 5000 females and is usually not inherited from parents.
Xeroderma pigmentosum
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Gaucher disease is a multisystemic lipidosis characterized by hematologic abnormalities, organomegaly, and skeletal involvement. There are three clinical subtypes delineated by the absence or presence and progression of neurologic manifestations. Treatment of type 1 includes enzyme replacement therapy to reverse symptoms. Types 2 and 3 also involve neurologic deterioration and have a poorer prognosis, though enzyme replacement may help with visceral symptoms in type 3.
Marfan syndrome andrew
This document provides information about Marfan syndrome, a genetic disorder of the connective tissue. It affects multiple body systems including the eyes, cardiovascular system, and nervous system. In the eyes, it can cause lens dislocation and retinal detachment. In the cardiovascular system, it weakens the aorta wall and increases the risk of aortic aneurysm or dissection. In the nervous system, it causes the dura surrounding the spinal cord to stretch and put pressure on the vertebrae. There is no cure for Marfan syndrome, but regular checkups and early detection/treatment of issues can help manage risks. Lifestyle adjustments and sometimes surgery may be needed depending on the specific problems present.
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This document discusses triple repeat abnormalities and their pathology. It begins with background on genes, chromosomes, and DNA. It then describes types of genetic mutations including point mutations, deletions/insertions, and trinucleotide repeat mutations. Trinucleotide repeat mutations involve expansion of repetitive DNA sequences containing 3 nucleotides, commonly G-C repeats. They can cause disease by disrupting gene expression or producing toxic protein gains. Over 40 diseases are caused by trinucleotide expansions, many involving neurodegeneration. The document outlines examples and mechanisms of trinucleotide repeat disorders.
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Werner syndrome is a rare genetic disorder that causes accelerated aging, where the body ages and deteriorates at a faster rate than normal starting in early adulthood. Symptoms include wrinkled skin, gray hair, loss of muscle and fat tissue, and other signs of premature aging. Those affected have a shortened life expectancy and usually do not live past their 50s due to diseases associated with normal aging like heart disease and cancer.
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Werner syndrome
- 1. Werner Syndrome Ealish J Ellis April, 2012
- 2. Werner Syndrome: What Is It? -Werner Syndrome is a mutation of the WRN gene. -The WRN gene is a helicase enzyme which separates and unwinds double stranded DNA, which is necessary for DNA to be copied for cell division. -It is also responsible for making the blue print of a gene for protein production. -Lastly, it’s also believed to play a role in repairing DNA.
- 3. Werner Syndrome: What it does? ✤ Werner Syndrome is a genetic disease which causes rapid aging. ✤ A person who has this disease will age normally until puberty at that point the speed of aging will increase. ✤ As seen in the opening slide a person who has aged ten years can look as though they’ve aged 25years. ✤ Werner Syndrome also raises a persons chances of getting cancer.
- 4. Werner Syndrome: How you get it? ✤ To inherit Werner Syndrome both copies of the WRN gene in the cells must be mutated. ✤ When inherited, each parent carries one copy of the mutated gene. ✤ Typically, parents will show no signs.
- 5. Werner Syndrome: The Numbers ✤ In the United States, an estimated 1 in 200,000 individuals are affected by Werner Syndrome. ✤ In Japan the syndrome is much more common affecting an estimated 1 in 20,000 to 1 in 40,000 individuals.
- 6. Werner Syndrome: Signs and Symptoms ✤ A person with Werner Syndrome will show signs if the disease in their teenage years. ✤ They typically will not experience a growth spurt during their teen years. ✤ Their signs of aging such as gray hair and hair loss will occur in their 20’s. ✤ In their 30’s things that may occur are cataracts, type 2 diabetes, and osteoporosis.
- 7. Werner Syndrome: The End ✤ The most common cause of death for people diagnosed with Werner Syndrome is cancer or heart attack. ✤ The life expectancy is average of 48 years.
- 10. Guess Her Age
- 11. Guess Her Age 21
- 12. Guess Her Age
- 13. Guess Her Age 48
- 14. Guess Her Age
- 15. Guess Her Age 56
- 18. These are the effects of Werner Syndrome
- 19. Citations ✤ "Werner Syndrome." - Genetics Home Reference. Web. 27 Mar. 2012. <http://ghr.nlm.nih.gov/condition/werner-syndrome>. ✤ "Werner Syndrome ATP-dependent Helicase." Wikipedia. Wikimedia Foundation, 27 Mar. 2012. Web. 27 Mar. 2012. <http://en.wikipedia.org/ wiki/Werner_syndrome_ATP-dependent_helicase>. ✤ "Werner Syndrome | Cancer.Net." Doctor-approved Cancer Information from ASCO. Web. 27 Mar. 2012. <http://www.cancer.net/patient/Cancer Types/Werner Syndrome>.
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