Angelman syndrome

Author: Brian Wu PhD. MD Candidate, Keck School of Medicine, Los Angeles, USA; Chief Editor: Hon A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand, February 2016.

What is Angelman syndrome?

Angelman syndrome is a rare neurological disorder which occurs in 1 out of every 15,000 births and in the past, was mistaken for other disorders like cerebral palsy or autism. It is marked by a complex array of symptoms.

 It was named for Dr. Harry Angelman, who first described the disorder in 1965.

Who gets Angelman syndrome?

Angelman syndrome is rare:

What causes Angelman syndrome?

Angelman syndrome is genetic in origin. Genetic changes can be random, that is, without a family history of the disorder.

Prader-Willi syndrome is a clinically distinct disorder due to a paternally derived defect mapped to the same chromosome as Angelman syndrome

*Image courtesy Genetics 4 Medics

What are the clinical features of Angelman syndrome?

Cutaneous features of Angelman syndrome include:

Noncutaneous features of Angelman syndrome include seizures, developmental delays, limited or lack of speech, mobility disorders, increase in smiling, a happy, excitable personality, hand flapping, abnormal sleep cycles and microcephaly.

How is Angelman syndrome treated?

There is no cure for Angelman syndrome. Lifelong care is needed and treatment focuses on managing symptoms. It can include:

What is the outcome for Angelman syndrome?

Despite the many limitations, the life expectancy of patients with Angelman syndrome is normal.  Often, patients will become less excitable as they age and they outgrow sleep cycle abnormalities. 

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