Angelman syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
No edit summary |
CSV import |
||
| Line 1: | Line 1: | ||
Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems. | {{SI}}<br> | ||
{{Infobox medical condition | |||
| name = Angelman syndrome | |||
| image = [[File:5-year-old_Mexican_girl_with_Angelman_syndrome_(cropped).png|alt=5-year-old Mexican girl with Angelman syndrome]] | |||
| caption = A 5-year-old girl with Angelman syndrome | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[speech impairment]], [[ataxia]], [[seizures]], [[happy demeanor]] | |||
| onset = Infancy | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] or [[chromosomal deletion]] on [[chromosome 15]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Cerebral palsy]], [[autism spectrum disorder]], [[Rett syndrome]] | |||
| treatment = [[Supportive care]], [[physical therapy]], [[speech therapy]], [[anti-seizure medication]] | |||
| prognosis = Normal life expectancy with supportive care | |||
| frequency = 1 in 12,000 to 20,000 people | |||
}} | |||
Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems.  Gastrointestinal, orthopedic, and eye problems also are often present.  | |||
[[File:Prader-Willi and Angelman Syndrome (Homo sapiens).svg|alt=Prader-willi and angelman syndrome|thumb|Prader-willi and angelman syndrome]] | [[File:Prader-Willi and Angelman Syndrome (Homo sapiens).svg|alt=Prader-willi and angelman syndrome|thumb|Prader-willi and angelman syndrome]] | ||
== Clinical features == | == Clinical features == | ||
Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months. | Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months.  | ||
== Progression == | == Progression == | ||
Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS. | Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS.  Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech.  | ||
[[File:5-year-old Mexican girl with Angelman syndrome.png|alt=Angelman syndrome|thumb|Angelman syndrome]] | [[File:5-year-old Mexican girl with Angelman syndrome.png|alt=Angelman syndrome|thumb|Angelman syndrome]] | ||
== Cause == | == Cause == | ||
The disorder results from the absence of the UBE3A gene inherited from the mother. | The disorder results from the absence of the UBE3A gene inherited from the mother.  The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system. | ||
== Prognosis == | == Prognosis == | ||
Fair. Most individuals with Angelman syndrome will have significant developmental delays, speech limitations, and motor difficulties, but they understand much of what is said and often learn to communicate non-verbally and by using communication devices. | Fair. Most individuals with Angelman syndrome will have significant developmental delays, speech limitations, and motor difficulties, but they understand much of what is said and often learn to communicate non-verbally and by using communication devices.  T | ||
<youtube> | <youtube> | ||
title='''{{PAGENAME}}''' | title='''{{PAGENAME}}''' | ||
| Line 24: | Line 39: | ||
== Treatment == | == Treatment == | ||
Symptomatic and supportive | Symptomatic and supportive | ||
== Sources and external links == | == Sources and external links == | ||
{{NINDS|Angelman Syndrome}} | {{NINDS|Angelman Syndrome}} | ||
Latest revision as of 13:45, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Angelman syndrome | |
|---|---|
.png)
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, speech impairment, ataxia, seizures, happy demeanor |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation or chromosomal deletion on chromosome 15 |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Cerebral palsy, autism spectrum disorder, Rett syndrome |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy, speech therapy, anti-seizure medication |
| Medication | N/A |
| Prognosis | Normal life expectancy with supportive care |
| Frequency | 1 in 12,000 to 20,000 people |
| Deaths | N/A |
Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems.  Gastrointestinal, orthopedic, and eye problems also are often present. 
.svg)
Clinical features[edit]
Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months. 
Progression[edit]
Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS.  Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech. 
Cause[edit]
The disorder results from the absence of the UBE3A gene inherited from the mother.  The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system.
Prognosis[edit]
Fair. Most individuals with Angelman syndrome will have significant developmental delays, speech limitations, and motor difficulties, but they understand much of what is said and often learn to communicate non-verbally and by using communication devices.  T
Treatment[edit]
Symptomatic and supportive
Sources and external links[edit]
Syndrome Angelman Syndrome at NINDS
 | |
|---|---|
 |
 |
| Chromosome abnormalities | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
| Disorders due to genomic imprinting | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
| Disorders of translation and posttranslational modification | ||||
|---|---|---|---|---|
|
