Introduction: Angelman syndrome is a complex genetic neurological disorder that primarily affects the nervous system. It was first reported in 1965 by the English pediatrician Harry Angelman. Angelman syndrome is caused by a small deletion in the long arm of maternal chromosome 15, del15q11, q13.
Angelman syndrome is caused by a mutation in the UBE3A gene. Mutations in this gene lead to the inactivation of the E6-AP protein, which is responsible for the synthesis of ubiquitin cell layers.
In Angelman syndrome, about 4MB (4MB) is removed from the long arm of the mother chromosome 15, which
In the biological processes of a DNA molecule, such a change is a major error.Nerve physiology in Angelman syndrome:
One of the more striking features of Angelman syndrome is the neurophysiological parameters.
Because the electroencephalogram (EEG) rate is very abnormal.
There are three distinct neurological patterns on electroencephalogram in patients with Angelman syndrome:
The first pattern is the 2-3 Hz range, which will lead to a sharp decrease in perceptual power.
The second pattern, which is the most common pattern, is in the range of 4-6 HZ, which leads to growth retardation and lack of learning and education in patients.
The third pattern - in the range of 3-6 HZ, which leads to intensified laughter and blinking at high speeds.
However, the nerve cells of people with Angelman syndrome appear to be properly synthesized, but they may not function properly.Clinical signs of Angelman syndrome:
Symptoms of the disease can be divided into three categories: fixed, common and accompanying.
Fixed symptoms include severe developmental delay, speech disorder, movement or balance disorders (ataxia and tremor movements), specific behaviors, irritable personality, and lack of concentration.
Common symptoms include microcephaly that begins before age 2 and seizures that usually begin under age 3, and electroencephalography.
Accompanying symptoms include protruding tongue, flat back, frequent tongue protrusion, malnutrition in infants, spaced teeth, runny mouth, strabismus, hypopigmentation of the skin, increased deep tendon reflexes (DTR) in the lower extremities, disorders Sleep is fascinated and staring and is very sensitive to heat, seemingly happy behavior, occasional laughter, jumping movements and imbalance.Diagnosis based on observation of delay in general development and inability to express words and seizures and gait
It is done rigidly.
Genomic hybridization comparison technique (a CGH) is used to detect the deletion or non-deletion of UBE3A gene activity in the long arm of chromosome 15 of the mother.
A combination of genetic tests can detect chromosomal defects related to the syndrome. ligation-dependent probe
amplification (MLPA) can be done.Treatment options:
There is currently no cure for Angelman syndrome.
But there are medications and ways to control the condition.
The severity of epilepsy can be controlled with several types of anticonvulsants such as phenotoin, phenobarbital, sodium valproate, and mild laxatives to encourage regular bowel movements. Perform physiotherapy to prevent joint stiffness.
And perform speech therapy and anticonvulsant use for patients with severe disease. Several clinical trials are underway for Angelman syndrome, but there is no definitive genetic treatment
Does not exist.
Methods: by study and review articlrs
Results: At present, the treatment of this syndrome is symptomatic and supportive, and genetic therapy or medication
There is no specific and it can be controlled only with a series of drugs and occupational therapies.
Conclusion: Due to a gene defect or lack of a gene called UBE3A, nerve cells in the brain of infected people do not work properly, which causes a range of mental and physical problems. This genetic disease is rare and affects one in every 15,000 to 20,000 people.