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Angelman syndrome

INFORMATION ON ANGELMAN SYNDROME:-

Angelman Syndrome may be defined as neurological disorder in which severe difficulties in learning are associated with a characteristic facial appearance and behavior.


CAUSES OF ANGELMAN SYNDROME:-

The main events which are responsible for development of Angelman syndrome are:-

1. Improper behavior of genes.
2. Uniparental disomy.
3. Translocation.


SYMPTOMS OF ANGELMAN SYNDROME:-

1. Feeding.
2. Delay in sitting and walking.
3. Absent speech.
4. Poor attention.
5. Severe learning disabilities.
6. Unusual movements.
7. Affectionate nature and frequent laughter.
8. Below average head size.
9. Fair hair and blue eyes.
10. Poor sleeping pattern.

DIAGNOSIS OF ANGELMAN SYNDROME:-

1. Characteristic of facial expression.
2. EEG.
3. Molecular genetic testing.
4. MRI.
5. CT scan.


TREATMENT OF ANGELMAN SYNDROME:-

There is no cure for Angelman syndrome but there are some treatments for the symptoms of the condition. Epilepsy can be stopped by the use of anticonvulsant medicines. Physiotherapy is important for proper joint movement and prevents stiffening or jamming of the joints. Occupational therapy, speech therapy, hydrotherapy and music therapy are also used in the management of this condition.


 

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