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Disease name : Angelman syndrome
bear upon population : The disorder is believed to affect somewhere between1 in 12,000 and 1 in 24,000 people , although these figures may be underestimated . Many cases of Angelman syndromecan go undiagnosedbecause the disordershares symptoms and characteristics with other conditions . Men and women are every bit potential to experience the disorder .
A young girl with Angelman syndrome.
Causes : Angelman syndrome is a genetic disorder named after Dr. Harry Angelman , who firstreported it in 1965 . The disorder chiefly affects thecentral nervous system , signify the brain and spinal cord , and it ’s because of mutant in the UBE3A gene . This cistron carries educational activity for a protein needed to preserve thenormal maturation and function of cells , including neurons in thebrain .
In each jail cell , humans typically have 23 pairs ofchromosomes — thread - like structures that houseDNA . One parent contributes half of each chromosome pair , and the other parent contributes the other one-half . UBE3A is settle on chromosome 15 . Mutations that cancel the gene or convert its social system , mapping or activitycan make Angelman syndrome . In many case , a mutation break spontaneously on the copy of the gene from the mother .
The genetic mutations behind Angelman syndrome usually occur randomly , butbetween 3 % and 5 % of childreninherit them from their parents . In around 10 % of multitude with the condition , the accurate cause of the syndrome ca n’t be identified .
Angelman syndrome causes severely delayed development and learning disabilities.
Related : unexampled genetical suit of intellectual disability potentially uncovered in ' junk DNA '
symptom : masses with Angelman syndrome normally bulge to develop symptoms of the disorder in early childhood . These include developmental problems , such ashaving trouble sitting unsupported or babbling , that become apparentaround historic period 6 to 12 month .
As the disorderliness progresses , affected people maystruggle to speak and walkbecause of equalizer and coordination issue . They may also see seizure , whichusually start when a child is between 2 and 3 eld old . what is more , some the great unwashed with the circumstance may have classifiable facial features , such asa outstanding chin , deep - adjust eyes or abnormally wide oral cavity . People who have the syndrome usually havea normal lifetime expectancy .
Symptoms of Angelman syndrome can sometimes beconfused with other disordersthat also cause developmental delays , such asautismorcerebral palsy , possibly leading to misdiagnosis .
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handling : There is currently no cure for Angelman syndrome .
However , several handling option subsist to aid manage their symptoms . For example , doctor mayprescribe anti - epileptic drugsto mastery patient ' seizures . physiatrics and communication therapy can also help to respectively improve patients ' power to walk and transmit with others without speaking — by using hand gesture or signal , for model .
This article is for informational purposes only and is not mean to offer medical advice .
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