What causes this problem? What are the signs and symptoms?
Are there prenatal tests for the neurofibromatoses?
What are the neurofibromatoses? The neurofibromatoses are a group of three genetically distinct disorders that cause tumors to grow in the nervous system. Tumors begin in the supporting cells that make up the nerve and the myelin sheath the thin membrane that envelops and protects the nervesrather than the cells that actually transmit information.
The type of tumor that develops depends on the type of supporting cells involved. The most common nerve-associated tumors in NF1 are neurofibromas tumors of the peripheral nerveswhereas schwannomas tumors that begin in Schwann cells that help form the myelin sheath are most common in NF2 and schwannomatosis.
Most tumors are benign, although occasionally they may become cancerous. Without the normal function of these proteins, cells multiply out of control and form tumors.
NF1 is the most common neurofibromatosis, occurring in 1 in 3, to 4, individuals in the United States. Although many affected people inherit the disorder, between 30 and 50 percent of new cases result from a spontaneous genetic mutation of unknown cause.
Once this mutation has taken place, the mutant gene can be passed to succeeding generations. What are the signs and symptoms of NF1?
To diagnose NF1, a doctor looks for two or more of the following: What other symptoms or conditions are associated with NF1?
Many children with NF1 have larger than normal head circumference and are shorter than average. Hydrocephalus, the abnormal buildup of fluid in the brain, is a possible complication of the disorder. Headache and epilepsy are also more likely in individuals with NF1 than in the healthy population.
Cardiovascular complications associated with NF1 include congenital heart defects, high blood pressure hypertensionand constricted, blocked, or damaged blood vessels vasculopathy.
Children with NF1 may have poor language and visual-spatial skills, and perform less well on academic achievement tests, including those that measure reading, spelling, and math skills. An estimated 3 to 5 percent of tumors may become cancerous, requiring aggressive treatment.
These tumors are called malignant peripheral nerve sheath tumors. When do symptoms appear?
Because many features of these disorders are age dependent, a definitive diagnosis may take several years. What is the prognosis for someone with NF1? NF1 is a progressive disorder, which means most symptoms will worsen over time, although a small number of people may have symptoms that remain constant.
In general, most people with NF1 will develop mild to moderate symptoms. Most people with NF1 have a normal life expectancy.
Neurofibromas on or under the skin can increase with age and cause cosmetic and psychological issues. How is NF1 treated?Neurofibromatoses are genetic disorders of the nervous grupobittia.com, these disorders affect the growth and development of nerve cell tissue.
The disorders are known as neurofibromatosis type 1. Signs and symptoms of these schwannomas can include: Numbness and weakness in the arms or legs; Pain; Balance difficulties; Facial drop; Vision problems or the development of cataracts; Schwannomatosis.
This rare type of neurofibromatosis usually affects people after the age of Symptoms of Neurofibromatosis (NF) Type 1. NF type 1 can affect many parts of the body. Most people with NF1 have some combination of these symptoms by age Be aware that this list is not diagnostic of NF1.
Only a physician can diagnose you with neurofibromatosis. What are the signs of Neurofibromatosis? The phrase "signs of Neurofibromatosis" should, strictly speaking, refer only to those signs and symptoms of Neurofibromatosis that are not readily apparent to the patient.
The word "symptoms of Neurofibromatosis" is the more general meaning; see symptoms of Neurofibromatosis. Signs and Symptoms of Neurofibromatoses Type 2 Other signs and symptoms include pain and numbness in various areas of the face, balancing problems, frequent headaches and tinnitus.
All these are result of the pressure exerted by the tumor on the nerves. Neurofibromatoses are genetic disorders of the nervous system. Mainly, these disorders affect the growth and development of nerve cell tissue. The disorders are known as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2).
NF1 is the more common type of neurofibromatosis.