2011 Group Project 7: Difference between revisions
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Angelman syndrome (AS) is a rare neurogenetic disorder, first described by Harry Angelman in 1956. | Angelman syndrome (AS) is a rare neurogenetic disorder, first described by Harry Angelman in 1956. | ||
It is caused by maternal allele disruptions of a single gene-UBE3A. Either mutations or deletions of UBE3A are liable for a variety of symptoms. Delayed development, seizures, motion malfunction, impairment of speech and a happy demeanor are the most frequent ones.<ref>http://www.ncbi.nlm.nih.gov/pubmed/21592595</ref> <ref>http://www.ncbi.nlm.nih.gov/pubmed/21484597</ref> <ref>http://www.angelmansyndrome.org/home.html</ref> The syndrome is sometimes incorrectly referred to as "happy puppet" syndrome, due to frequent laughter and excitement. <ref>http://www.ncbi.nlm.nih.gov/books/NBK22221/</ref> | It is caused by maternal allele disruptions of a single gene-UBE3A. Either mutations or deletions of UBE3A are liable for a variety of symptoms. | ||
Delayed development, seizures, motion malfunction, impairment of speech and a happy demeanor are the most frequent ones.<ref>http://www.ncbi.nlm.nih.gov/pubmed/21592595</ref> <ref>http://www.ncbi.nlm.nih.gov/pubmed/21484597</ref> <ref>http://www.angelmansyndrome.org/home.html</ref> | |||
The syndrome is sometimes incorrectly referred to as "happy puppet" syndrome, due to frequent laughter and excitement. <ref>http://www.ncbi.nlm.nih.gov/books/NBK22221/</ref> | |||
About 1 in 25,000 newborn babies are affected by this disorder. There appears to be no discrepancy in males and females affected by it, and persons with the syndrome have a normal life span. <ref>http://www.angelmansyndrome.org/home.html</ref> <ref>http://www.ncbi.nlm.nih.gov/pubmed/14510623</ref> | |||
Up to now there is no cure for the syndrome, and current research does rather focus at improving life quality of patients with Angelman syndrome, than finding a cure. <ref>http://www.bbc.co.uk/health/physical_health/conditions/angelman1.shtml</ref> | |||
==History== | ==History== | ||
Revision as of 19:33, 31 August 2011
Angelman Syndrome
Introduction
Angelman syndrome (AS) is a rare neurogenetic disorder, first described by Harry Angelman in 1956.
It is caused by maternal allele disruptions of a single gene-UBE3A. Either mutations or deletions of UBE3A are liable for a variety of symptoms.
Delayed development, seizures, motion malfunction, impairment of speech and a happy demeanor are the most frequent ones.[1] [2] [3]
The syndrome is sometimes incorrectly referred to as "happy puppet" syndrome, due to frequent laughter and excitement. [4]
About 1 in 25,000 newborn babies are affected by this disorder. There appears to be no discrepancy in males and females affected by it, and persons with the syndrome have a normal life span. [5] [6]
Up to now there is no cure for the syndrome, and current research does rather focus at improving life quality of patients with Angelman syndrome, than finding a cure. [7]
History
Timeline
Incidence
Aetiology
Pathophysiology
Signs and Symptoms
Diagnosis
Prognosis
Treatment
Management
Current and Future Research
Glossary
References
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/21592595
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/21484597
- ↑ http://www.angelmansyndrome.org/home.html
- ↑ http://www.ncbi.nlm.nih.gov/books/NBK22221/
- ↑ http://www.angelmansyndrome.org/home.html
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/14510623
- ↑ http://www.bbc.co.uk/health/physical_health/conditions/angelman1.shtml
