Neurofibromatosis Treatment in Hyderabad

overview

Neurofibromatoses are a group of genetic disorders that lead to the formation of tumors on nerve tissue. These tumors can grow anywhere in the nervous system, including the brain, spinal cord, and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis. NF1 is usually diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed in early adulthood.

Tumors in these diseases are usually not cancerous (benign), but can sometimes become cancerous (malignant). The symptoms are often mild. However, complications from neurofibromatosis can include hearing loss, learning difficulties, cardiovascular (cardiovascular) problems, loss of vision, and severe pain. Neurofibromatosis Treatment in Hyderabad

symptoms

There are three types of neurofibromatosis, each with different signs and symptoms.

Neurofibromatosis 1
Neurofibromatosis 1 (NF1) is usually diagnosed in childhood. The signs are often evident at birth or shortly thereafter, and almost always by the age of 10. The signs and symptoms are often mild to moderate in severity, but can vary in severity.

Signs and symptoms are:

The reasons

Neurofibromatosis is caused by genetic abnormalities (mutations) that are passed on from a parent or that occur spontaneously at conception.

The specific genes involved depend on the type of neurofibromatosis:

Risk factors
Autosomal dominant inheritance model
Autosomal Dominant Inheritance PatternOpen Context Dialog
The biggest risk factor for neurofibromatosis is a family history of the disease. About half of people with NF1 and NF2 inherited the disease from an affected relative. People with NF1 and NF2 whose relatives are unaffected are likely to have a new genetic mutation.

NF1 and NF2 are both autosomal dominant disorders, meaning that every child from one of the parents affected by the disorder has a 50% chance of inheriting the genetic mutation.

The inheritance pattern of schwannomatosis is less clear. The researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is around 15%.

Complications
The complications of neurofibromatosis even vary within the same family. Usually complications result from tumors that affect nerve tissue or put pressure on internal organs.

NF1 complications
Complications from NF1 include:

Neurological problems. Learning and thinking difficulties are the most common neurological problems associated with NF1. Rare complications include epilepsy and the accumulation of excess fluid in the brain.
Appearance problems. Visible signs of neurofibromatosis – such as extensive café-au-lait spots, numerous facial neurofibromas, or large neurofibromas – can cause anxiety and emotional distress, although not medically severe.
Skeletal problems. Some children have abnormally shaped bones, which can cause curvatures in the legs and fractures that sometimes don’t heal. NF1 can cause a curvature of the spine (scoliosis) that may require bracing or surgery. NF1 is also linked to a decrease in bone mineral density, which increases the risk of weak bones.

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