Angelman Syndrome: A Genetic Disorder Affecting Nervous System
Overview
Angelman syndrome is a rare genetic disorder that primarily affects the nervous system. It is characterized by developmental disabilities, speech impairment, and distinctive physical features.Causes
Angelman syndrome is caused by a problem with the UBE3A gene located on the 15th chromosome. In most cases, the problem is a deletion of this gene.
The UBE3A gene provides instructions for making a protein that is involved in the breakdown of other proteins. When this protein is not present or is not functioning properly, it can lead to the development of Angelman syndrome.
Symptoms
The symptoms of Angelman syndrome can vary from person to person, but common features include:
- Intellectual disability
- Speech impairment
- Motor skill problems
- Seizures
- Distinctive physical features, such as a small head, wide-set eyes, and a protruding tongue
Treatment
There is no cure for Angelman syndrome, but treatment can help to manage the symptoms. Treatment may include therapies such as physical therapy, occupational therapy, and speech therapy. Medications may also be used to control seizures.
Outlook
The life expectancy of people with Angelman syndrome is typically shorter than average. However, with early intervention and support, people with this condition can live happy and fulfilling lives.
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