AN OVERVIEW OF ANGELMAN SYNDROME (AS): A RARE NEURO-GENETIC DISORDER - ETIOLOGY TO IT'S POSSIBLE TREATMENT

Ajay Singh Amera, Anil Kumar, Ashvini Vijay Soyam, Aditya Mathur, Amisha Rani, Dimple, Deepak Garg and Gopal Kumar Rai*

ABSTRACT

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. A tiny head and distinct facial features, significant intellectual impairment, developmental disability, restricted to nonexistent functional speech, difficulties with balance and mobility, seizures, and difficulty sleeping are among the symptoms. Youngsters often have a cheerful disposition and a special interest in water. By the time a child is a year old, the symptoms usually become apparent. A novel mutation, as opposed to an inherited one, causes a portion of chromosome 15 to stop functioning, which causes Angelman syndrome. On that chromosome, a deletion or mutation of the UBE3A gene is often to blame. Sometimes it results from paternal uniparental disomy, which is the inheritance of two copies of chromosome 15 from the dad and none from mom. No functional form of the gene survives because the father's versions are rendered inactive through a process called genomic imprinting. The symptoms and perhaps genetic tests are used to make the diagnosis. There is currently no known treatment. The type of treatment is often supportive. People who have seizures are treated with anti-seizure drugs. Bracing and physical therapy might be helpful for walking. The lifespan expectancy of those impacted is almost normal. About 1 in 12 to 20,000 persons have AS. Both sexes experience the condition equally frequently. It bears the name Harry Angelman in honor of the British doctor who initially reported the disease in 1965. This review's main goal is to concentrate on and go over the causes, signs, diagnosis, course of therapy, and side effects of Angelman syndrome.

Keywords: Angelman syndrome, Chromosome, Hyperactivity, Therapy, Seizures.