Angelman syndrome

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Angelman syndrome (pronounced: /ˈeɪndʒəlmən/ AIN-jel-mən) is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

Etymology

The syndrome is named after the British pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. He initially referred to the condition as 'happy puppet syndrome' due to the characteristic happy demeanor and puppet-like movements of the patients. However, this term is now considered pejorative and is no longer in use.

Symptoms

Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.

Causes

Angelman syndrome is caused by the loss of the normal function of the UBE3A gene. The UBE3A gene provides instructions for making an enzyme called ubiquitin protein ligase E3A. This enzyme is involved in protein degradation, a process that removes unneeded proteins from cells.

Diagnosis

Diagnosis of Angelman syndrome can be challenging due to the broad range of symptoms and severity. It is often diagnosed through genetic testing to identify the missing function of the UBE3A gene.

Treatment

There is currently no cure for Angelman syndrome. Treatment focuses on managing the medical and developmental issues. This may include anti-seizure medication for epilepsy, physical therapy for motor issues, and communication therapy for speech problems.

See also

External links

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