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What is Angelman syndrome?

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Quick Answer

Angelman syndrome is a genetic disorder that causes severe neurological and developmental disability, sleep disturbance, outbursts of laughter, seizures, and difficulty with balance and walking, according to Mayo Clinic. In spite of the debilitating nature of the condition, many people afflicted with Angelman syndrome experience normal life spans and happy personality traits.

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The Mayo Clinic notes that Angelman syndrome is caused by a defect with the ubiquitin-protein ligase E3A (UBE3A) gene. In most cases, the missing or damaged gene can be traced to the mother although in a smaller number of cases the paternal gene can play a factor. Signs of the syndrome are noticeable in the early months of life, usually in the form of feeding problems.

MedicineNet.com notes that by the time the child reaches 2 to 3 years old, he often begins to experience seizures. As the child develops, he can experience impaired speech, hyperactivity, difficulty sleeping, and problems with walking and balance. Diagnosing the condition requires genetic testing to determine definitively if any discovered defects can be traced to Angelman syndrome.

The Mayo Clinic notes that testing involves analysis of gene mutations; DNA patterns of the parents; missing chromosomes; and chromosome size, shape and number. Because chromosomes cannot be repaired, there is no known cure for Angelman syndrome. Treatment is designed to manage the condition and usually involves specific medical therapy, such as physical and occupational therapies, communication therapy and behavioral therapies, as stated by MedicineNet.

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