Werner syndrome: Difference between revisions
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==History== | ==History== | ||
Werner's syndrome is named after [[Otto Werner]],<ref>{{WhoNamedIt|synd|892}}</ref> a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904. | Werner's syndrome is named after [[Otto Werner]],<ref>{{WhoNamedIt|synd|892}}</ref> a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904. | ||
==Pathophysiology== | ==Pathophysiology== | ||
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* Although the symptoms manifest after 10 years, the earliest person diagnosed was six years old.<ref name="Leis">Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/</ref> Following puberty, they age rapidly, so that by age 40, they often appear several decades older. | * Although the symptoms manifest after 10 years, the earliest person diagnosed was six years old.<ref name="Leis">Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/</ref> Following puberty, they age rapidly, so that by age 40, they often appear several decades older. | ||
* In people with Werner syndrome, death usually occurs by [[myocardial infarction]] or [[cancer]]<ref name="Leis" /> | * In people with Werner syndrome, death usually occurs by [[myocardial infarction]] or [[cancer]]<ref name="Leis" /> | ||
==Symptoms== | |||
Individuals with this syndrome typically develop normally until they reach [[puberty]]. Following puberty they age rapidly, so that by age 40 they often appear several decades older. The age of onset of Werner syndrome is variable, but an early sign is the lack of a teenage growth spurt, which results in short stature. Other signs and symptoms appear when affected individuals are in their twenties or thirties and include loss and graying of hair, hoarseness of the voice, thickening of the skin, and cloudy lenses ([[cataract]]s) in both eyes. Overall, people affected by Werner syndrome have thin arms and legs and a thick torso. | |||
Affected individuals typically have a characteristic facial appearance described as "bird-like" by the time they reach their thirties. Patients with Werner syndrome also exhibit genomic instability, [[hypogonadism]], and various age-associated disorders; these include [[cancer]], [[coronary heart disease|heart disease]], [[atherosclerosis]], [[diabetes mellitus]], and [[cataract]]s. However, not all characteristics of old-age are present in Werner patients; for instance, [[senility]] is not seen in individuals with Werner syndrome. People affected by Werner syndrome usually do not live past their late forties or early fifties, often dying from the results of cancer or heart disease. | |||
Revision as of 14:55, 24 July 2012
| Werner syndrome | ||
| ICD-9 | 259.8 | |
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| OMIM | 277700 | |
| DiseasesDB | 14096 | |
| MeSH | C16.320.925 | |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
Werner Syndrome (WRN) is a very rare, autosomal recessive[1] disorder characterized by the appearance of premature aging.[2]
Werner's syndrome more closely resembles accelerated aging than any other segmental progeria. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria.
History
Werner's syndrome is named after Otto Werner,[3] a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904.
Pathophysiology
Werner syndrome is an autosomal recessive disorder.[1] The gene associated with Werner Syndrome lies onchromosome 8 in humans.[4]The defect is on a gene that codes DNA helicase and it is located on the short arm of the 8th chromosome. The disorder is directly caused by shorter-than-normal length telomere maintenance. As a result DNA replication is impaired.
Natural history, Complications and Prognosis
- Although the symptoms manifest after 10 years, the earliest person diagnosed was six years old.[5] Following puberty, they age rapidly, so that by age 40, they often appear several decades older.
- In people with Werner syndrome, death usually occurs by myocardial infarction or cancer[5]
Symptoms
Individuals with this syndrome typically develop normally until they reach puberty. Following puberty they age rapidly, so that by age 40 they often appear several decades older. The age of onset of Werner syndrome is variable, but an early sign is the lack of a teenage growth spurt, which results in short stature. Other signs and symptoms appear when affected individuals are in their twenties or thirties and include loss and graying of hair, hoarseness of the voice, thickening of the skin, and cloudy lenses (cataracts) in both eyes. Overall, people affected by Werner syndrome have thin arms and legs and a thick torso.
Affected individuals typically have a characteristic facial appearance described as "bird-like" by the time they reach their thirties. Patients with Werner syndrome also exhibit genomic instability, hypogonadism, and various age-associated disorders; these include cancer, heart disease, atherosclerosis, diabetes mellitus, and cataracts. However, not all characteristics of old-age are present in Werner patients; for instance, senility is not seen in individuals with Werner syndrome. People affected by Werner syndrome usually do not live past their late forties or early fifties, often dying from the results of cancer or heart disease.
- ↑ 1.0 1.1 Ozgenc A, Loeb LA (2005). "Current advances in unraveling the function of the Werner syndrome protein". Mutation research. 577 (1–2): 237–51. doi:10.1016/j.mrfmmm.2005.03.020. PMID 15946710. Unknown parameter
|month=ignored (help) - ↑ Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA (1997). "The Werner syndrome protein is a DNA helicase". Nature genetics. 17 (1): 100�"3. doi:10.1038/ng0997-100. PMID 9288107. Unknown parameter
|month=ignored (help); replacement character in|pages=at position 4 (help) - ↑ Template:WhoNamedIt
- ↑ Goto M, Rubenstein M, Weber J, Woods K, Drayna D (1992). "Genetic linkage of Werner's syndrome to five markers on chromosome 8". Nature. 355 (6362): 735–8. doi:10.1038/355735a0. PMID 1741060. Unknown parameter
|month=ignored (help) - ↑ 5.0 5.1 Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/