Rare Classroom: Angelman Syndrome

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Angelman Syndrome

What is Angelman Syndrome?

  • Angelman syndrome is a genetic disorder that impacts the nervous system
  • This syndrome impacts anywhere from 1 in 12,000 people to 1 in 20,000
  • Patients often have a happy demeanor and are fascinated by water
  • Angelman syndrome is named after Harry Angelman, a British pediatrician. He first described the syndrome in 1965 in three children.
    • Case reports in the US first appeared in the 1980s

How Do You Get It?

  • Angelman syndrome is found equally in males and females
  • The disorder is caused by the loss of function or expression in the gene UBE3A
    • The gene is found in chromosome 15 on a region that is part of the ubiquitin pathway
    • This region, called 15q11-13, is implicated both in Angelman syndrome and Prader-Willi syndrome
  • Typically, this is the result of a spontaneous, not inherited, mutation
  • However, in some cases, patients inherit two copies of the chromosome from the father and none from the mother, a condition called paternal uniparental disomy.

What Are the Symptoms?

  • Signs and symptoms of Angelman syndrome include:
    • Developmental delay, often leading to severe deficiencies in functioning
    • Speech impairment, with many patients being nonverbal
    • Difficulties with balance and movement, such as ataxia
    • Short attention span
    • Frequent smiling and laughter
    • Easy excitability, often with hand flapping
    • Microcephaly
    • Seizures
    • Sleep issues
    • Strabismus
    • Sensitivity to heat
    • Prominent jaw
    • Smooth palms
    • Feeding problems during infancy

How Is It Treated?

  • There is no cure available for Angelman syndrome, and treatment of the disease is primarily supportive.
  • Treatment options for the syndrome can include:
    • Anticonvulsants for seizures
    • Melatonin is often used to promote healthy sleep
    • Physiotherapy, occupational therapy, and speech/language therapy
  • As Angelman syndrome patients mature, some of their symptoms may improve, as the condition is not progressive in nature; however, they usually cannot live independently
  • Patients have a slightly reduced life expectancy

Where Can I Learn More???

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