Rare Disease Report

Disease Focus: Angelman syndrome

JULY 18, 2012

Angelman syndrome is a neuro-genetic disorder that occurs in approximately 1 in 15,000 live births. It is due to a mutation of a gene UBE3A found on chromosome 15. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care. Two striking features of these patients are their ‘happy’ demeanor and their susceptibility to seizures. Symptoms vary with each individual and Angelman syndrome may be misdiagnosed as cerebral palsy or autism.

Although the symptoms (and severity) will vary with each patient, there are certain symptoms that that appear with some consistency. According to the Angelham syndrome foundation, symptoms that always appear include:

  • Developmental delay, functionally severe
  • Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs.
  • Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with uplifted handflapping or waving movements; hypermotoric behavior
  • Speech impairment, none or minimal use of words.

Symptoms that occur in most patients (> 80%)

  • Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (≤2 S.D. of normal OFC) by age 2 years.
  • Seizures, onset usually < 3 yrs. of age. Seizure severity usually decreases with age
  • Abnormal EEG.

While symptoms are severe, persons with Angelham syndrome tend to live long into adulthood.


There is currently no specific treatment for Angelham syndrome. Most persons will require medication to control seizure activity and/or any other physical system associated with the disease. Various forms of physical, occupational, communication, and/or behavior therapies are also common.

There are currently a few small clinical trials involving treatment of symptoms associated with Angelham syndrome. There is also one open label clinical trial looking at the efficacy of minocycline to improve Bayley Scales in children with Angelham syndrome. That trial is expected to be completed in 2013. At present, there are no FDA designated reported orphan drugs for this condition.

Angelman Syndrome Foundation

The Angelman syndrome foundation is a national 501(c)(3) organization dedicated to providing persons with as much helpful information about Angelman syndrome as possible.

The Angelman syndrome foundation sponsors an biennial conference and provides various grants for research. Since 1996, the foundation has funded 66 research grants totaling over $4.6 million.

For more information about this foundation, visit http://www.angelman.org/

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