Angelman Syndrome

Overview

A syndrome characterized by multiple abnormalities, INTELLECTUAL DISABILITY, 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)

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Angelman Syndrome

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.662.075|C16.131.077.095|C16.131.260.040|C16.320.180.040|C16.320.447.250

Preparing for an appointment about Angelman Syndrome

If you are speaking with a healthcare professional about Angelman Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Angelman Syndrome

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