With Its Own Disease Code, Angelman Syndrome Will be Easier to Research and Monitor

According to a story from Angelman Syndrome news, Angelman syndrome was recently given its own disease unique disease code: Q93.51.

The new code will help make researching and tracking the disease much easier. It will also serve as an important tool to track just how many people actually have Angelman syndrome. The new code simply adds an extra digit—the “1” at the end, but it makes all the difference, because the Q93.5 category has become something of a wastebasket code that refers to hundreds of other genetic diseases.

Angelman syndrome is a rare genetic disorder that primarily affects the body’s nervous system. The disorder is caused by a genetic mutation on chromosome 15 that involves the UBE3A gene. While it can be inherited, it often appears as a new mutation. Symptoms include speech impairment, developmental delays, movement/balance issues, seizures, microcephaly, intellectual disability, distinct face and hand features, a generally happy demeanor, and a fascination with water. Treatment is mostly symptomatic, and there is no cure. People with Angelman syndrome typically live a normal lifespan, and crave play and social interaction. They also develop strong non-verbal communication and appear to understand far more than they can indicate. To learn more about Angelman syndrome, click here.

The decision to give Angelman syndrome its own code was that of the National Center for Health Statistics. The code will make it easier for researchers and scientists to develop new standards of care, monitor mortality rates, recruit patients for clinical trials, and monitor the outcomes of treatments.

As the records with the new code begin to accumulate, researchers will be able to make determinations such as the average age that people with the disorder are hospitalized and common causes of death. Current projections suggest that at least 30,000 people in the US have Angelman syndrome, but due to lack of record keeping, the number could be substantially higher.

Raquel Cabo, who is the VP for global market access at Ovid Therapeutics, says that the new code will also help the company in its efforts to develop a possible treatment for Angelman syndrome.

There are also ongoing efforts for other rare diseases, such as Prader-Willi syndrome and Dravet syndrome, to get their own codes too.

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