Angelman syndrome

Angelman syndrome (AS) be a genetic disorder wey mainly dey affect de nervous system. Symptoms dey include a small head den a specific facial appearance, severe intellectual disability, developmental disability, wey be limited to no functional speech, balance den movement problems, seizures, den sleep problems. Those wey be affected usually get a happy personality wey dey get a particular interest for water insyd.

Angelman syndrome be secof a lack of function of part of chromosome 15, typically due to a new mutation rada dan one dem inherit. Most often e be secof a deletion anaa mutation of de UBE3A gene for dat chromosome top. Occasionally e be secof de inheritance of two copies of chromosome 15 from de poppie den none from de mommie (paternal uniparental disomy). As de poppie ein versions be inactivated by a process dem know as genomic imprinting, no functional version of de gene dey remain. Diagnosis be based for symptoms top den possibly genetic testing.

No cure be available. Treatment be generally supportive for nature insyd. Dem dey use anti-seizure medications for those plus seizures. Physical therapy den bracing fi help plus walking. Those wey be affected get a nearly normal life expectancy.

 Signs den symptoms 
Signs den symptoms of Angelman syndrome den dema relative frequency insyd affected individuals be:

 Consistent (100%) 

 Developmental delay, functionally severe
 Speech impairment, no anaa minimal use of words; receptive den non-verbal communication skills higher dan verbal ones
 Movement anaa balance disorder, usually ataxia of gait den/anaa tremulous movement of limbs
 Behavioral characteristics of de types wey dey follow types: any combination of atypical frequent laughter/smiling; atypically happy demeanor; easily excitable personality, often plus hand flapping movements; hypermotoric behavior; short attention span

 Frequent (more dan 80%) 

 Delayed, disproportionate growth insyd head circumference, usually dey result insyd microcephaly (absolute anaa relative) by age 2
 Seizures, onset usually less dan 3 years of age
 Abnormal EEG, characteristic pattern plus large amplitude slow-spike waves

 Associated (20–80%) 

 Strabismus
 Hypopigmented skin den eyes
 Tongue thrusting; suck/swallowing disorders
 Hyperactive tendon reflexes
 Feeding problems during infancy
 Uplifted, flexed arms during walking
 Prominent mandible
 Increased sensitivity to heat
 Wide mouth, wide-spaced teeth
 Sleep disturbance
 Frequent drooling, protruding tongue
 Attraction to/fascination plus water
 Excessive chewing/mouthing behaviors
 Flat back of head
 Smooth palms
 Gastroesophageal reflux disease (GERD)
 Constipation

 Diagnosis 
De diagnosis of Angelman syndrome dey base on:

 A history of delayed motor milestones den then later a delay insyd general development, especially of speech
 Unusual movements wey dey include fine tremors, jerky limb movements, hand flapping den a wide-based, stiff-legged gait.
 Characteristic facial appearance (buh no be insyd all cases).
 A history of epilepsy den an abnormal EEG tracing.
 A happy disposition plus frequent laughter
 A deletion anaa inactivity on chromosome 15 by array comparative genomic hybridization (aCGH) anaa by BACs-on-Beads technology.

 Differential diagnosis 
Oda conditions wey fi appear similar dey include:"Common Misdiagnoses". Foundation For Angelman Syndrome Therapeutics. 2 August 2019. Retrieved 10 March 2024.

 Autism spectrum
 Cerebral palsy
 Rett syndrome
 Mowat–Wilson syndrome
 Adenylosuccinate lyase deficiency
 Pitt–Hopkins syndrome
 Phelan–McDermid syndrome
 Prader–Willi syndrome

 References 

External links

  GeneReviews/NCBI/NIH/UW entry on Angelman syndrome

Category:Neurological disorders
Category:Rare syndromes
Category:Syndromes wey dey affect de nervous system
Category:Syndromic autism
Category:Genodermatoses
Category:Autosomal monosomies den deletions
Category:Learning disabilities
Category:Disorders causing seizures
Category:Translated from MDWiki