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Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow, and it causes tumours to grow on nerves. The tumours are usually benign, but sometimes become cancerous.

It can be inherited from a parent, or arise from a new mutation (change) in a person's genes. Anyone who has it can pass it on to their children.

Three types

TypeMain effectsWhen it starts
Type 1 (NF1)Skin changes and deformed bonesUsually in childhood; sometimes present at birth
Type 2 (NF2)Hearing loss, ringing in the ears, poor balanceOften in the teenage years
SchwannomatosisIntense pain; the rarest type

Diagnosis and treatment

Doctors tell the types apart by their symptoms, and genetic testing is also used to diagnose NF1 and NF2. There is no cure, but treatment can help control symptoms. Depending on the type and how severe it is, treatment may include surgery to remove tumours, radiation therapy and medicines.

Sources

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이용 허락: CC0 1.0 (퍼블릭 도메인) · 출처 medlineplus.gov

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