Symptoms of neurofibromatosis

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Doctors divide neurofibromatosis symptoms into three main groups: neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. These three categories represent different types of neurofibromatosis, which is just one of the potential human genetic disorders a parent can pass on to a child. Treating neurofibromatosis depends on what types of neurofibromatosis and what you are presenting with in terms of symptoms. Neurofibromatosis symptoms vary with each type and can help a doctor come to a diagnosis.

Neurofibromatosis symptoms type 1 (NF1)

These types of neurofibromatosis tend to appear during childhood and include skin abnormalities like light brown spots, freckling on the arm, soft bumps under the skin, and bumps on the irises, in terms of smaller symptoms. Neurofibromatosis symptoms for NF1 can also include a larger head size, short stature, and bone deformities. Finally, learning disabilities can also occur but are rare and generally mild. The soft bumps on the eyes and skin are known as Lisch nodules and neurofibromas, respectively. They are mild and usually benign.

Neurofibromatosis symptoms type 2 (NF2)

NF2 is one of the less common types of neurofibromatosis. These neurofibromatosis symptoms stem from acoustic neuromas in the ears, which affect sound and balance. This presents itself in terms of neurofibromatosis symptoms through gradual hearing loss, ringing in the ears, and lack of balance. If the neuromas get worse, they can grow in other nerves as well, impacting pin tolerance, numb or weak arms and legs, and facial drop. Vision problems are also counted among the neurofibromatosis symptoms for NF2.

Neurofibromatosis symptoms for schwannomatosis

Among the more rare types of neurofibromatosis is a form called schwannomatosis. It has been discovered more recently and usually affects people after their 20s and 30s. Neurofibromatosis symptoms for this type include painful tumors growing on the cranial, spinal, and peripheral nerves. The biggest sign of these types of neurofibromatosis would be chronic pain throughout the body.

Dealing with human genetic disorders and treating neurofibromatosis

Recognizing neurofibromatosis symptoms will help you cut to the quick in terms of treating it. Human genetic disorders can remain dormant in the body for years, so you should get tested as soon as possible if you think you are a carrier. A doctor will work with you to make sure you are treating neurofibromatosis in a way that's conducive to your type, your lifestyle, and your progress. Treating neurofibromatosis is not a once-size-fits-all kind of situation, since what works for you might not work for someone else. However, that first step is always recognizing neurofibromatosis symptoms and getting yourself to a specialist as soon as possible.