Canadian Medical Guide > Diseases > Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Angelman Syndrome Terms and Definitions




Angelman Syndrome

Medical Definition: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
Previously Indexed: Ataxia (1972-1992),Mental Disorders (1967-1992),Movement Disorders (1967-1992)

Angelman Syndrome Medical Definitions and Terms

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