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Better Clinical Management Needed for Patients with Neurofibromatosis

It’s hoped that increased scientific knowledge will enable better clinical management and fewer complications for those people who suffer from neurofibromatosis (NF). A new paper, written by Nikolas Mata-Machado, a paediatric neurologist and specialist in NF at the Loyola University Medical Center, has proposed a series of guidelines for the clinical management of the condition. This was published in the recent edition of the Journal of Neuropsychiatry and Clinical Neurosciences.

Neurofibromatosis is one of the most common genetic disorders in the United States

Neurofibromatosis is a genetic disorder that affects over 100,000 people in the United States, causing benign tumours to grow on the brain, spinal cord and other parts of the nervous system. It’s one of the most common genetic disorders, affecting approximately 1 in every 3,000 babies born in the States. At the moment there are no drugs to prevent or reverse the two types of neurofibromatosis, but as scientists begin to understand more about the condition they’ve been able to offer better clinical management resulting in fewer complications and a much better quality of life for patients.

Patients can suffer from a range of symptoms and effects

Outward signs of the condition include brown spots on the skin, with sufferers usually experiencing neurofibromas or soft bumps on or under the skin too. They may also have tiny bumps on the iris of the eye, which are known as Lisch nodules. However, the effects that this condition can have on sufferers is wide ranging, from mild symptoms such as headaches to much more severe problems including learning disabilities, problems with hearing, balance and the heart; and a variety of bone problems including curvature of the spine.

While most doctors are able to diagnose neurofibromatosis, it’s much more difficult to predict the onset or severity of the condition. This makes managing NF a huge challenge, with treatment often requiring input from specialists from a variety of disciplines depending on the symptoms. As every patient presents a unique set of issues, it means that there isn’t a standard clinical approach, with sufferers being advised to have annual medical visits to assess and monitor their symptoms. In addition, anyone with NF needs to have periodic reviews and undergo some form of genetic counselling.

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