Is schwannomatosis genetic?

Schwannomatosis is a rare genetic disorder that results in tumors (called schwannomas) that grow on the peripheral nerves throughout the body. It is recognized most often in people over the age of 30. Schwannomatosis can cause severe, debilitating pain and neurological dysfunction.

What gene causes schwannomatosis?

A gene called INI1 (also called SMARCB2) is often found to be the cause of familial schwannomatosis. Sporadic and mosaic schwannomatosis can also be caused by the INI1 gene. However, for many people with sporadic or mosaic schwannomatosis, the INI1 gene is not the cause of their condition.

Is schwannomatosis dominant or recessive?

Schwannomatosis is inherited in an autosomal dominant manner. Fewer than 20% of individuals have an affected parent. The proportion of cases caused by de novo pathogenic variants is approximately 30% for LZTR1-related schwannomatosis and 10% for SMARCB1-related schwannomatosis.

Do schwannomas run in families?

Schwannoma rarely runs in families. There are some genetic conditions which may run in families that may increase the risk of schwannoma, such as neurofibromatosis type 2 (NF2), schwannomatosis, and Carney Complex.

What is the life expectancy of a person with NF2?

Tumours that develop inside the brain and spinal cord can place a strain on the body and shorten life expectancy. The average life expectancy for someone with NF2 is 65 years of age. Read more about treating neurofibromatosis type 2.

How do I know if my schwannoma is malignant?

Signs and symptoms of malignant peripheral nerve sheath tumors include:

1. Pain in the affected area.
2. Weakness when trying to move the affected body part.
3. A growing lump of tissue under the skin.

Is schwannomatosis curable?

Because there is currently no cure for schwannomatosis, treatment and medical management of the condition often focuses on surgery to remove schwannomas (nerve tumors) and lessen the associated nerve pain. Complete removal of the tumors often helps pain to subside, although the pain may recur if other tumors form.

Are neuromas hereditary?

Are acoustic neuromas hereditary? People who have neurofibromatosis type 2 (NF2) may inherit a genetic tendency to develop acoustic neuromas. Among patients with NF2, acoustic neuromas are typically present on both sides, and symptoms affect both ears.

What does the NF2 gene do?

The NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves.

Is NF2 a disability?

If you or your dependent has neurofibromatosis, you may qualify for Social Security disability benefits. While the Social Security Administration (SSA) does not list the condition specifically, the SSA will consider many of the symptoms typically suffered by those who have neurofibromatosis.

What percentage of schwannomas are malignant?

A single (or sporadic) nerve sheath tumor can also occur in people who do not have NF1, NF2 or schwannomatosis. About 5 percent of all peripheral nerve sheath tumors are malignant.

What is the life expectancy of someone with schwannomatosis?

The life expectancy of people with schwannomatosis is normal. Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system.