Neurofibromatosis type I NF-1 , or von Recklinghausen syndrome , is a complex multi-system human disorder caused by the mutation of neurofibromin 1 NF NF-1 is a gene on chromosome 17 that is responsible for production of a protein neurofibromin which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system that can grow anywhere on the body.
NF-1 is one of the most common genetic disorders and is not limited to any person's race or sex. NF-1 is an autosomal dominant disorder, which means that mutation or deletion of one copy or allele of the NF-1 gene is sufficient for the development of NF-1 , although presentation varies widely and is often different even between relatives affected by NF As of [update] , there are at least , people in the U.
While some people have major complications, others with the condition can lead productive and full lives. Due to its rarity, and to the fact that genetic diagnosis has been used only in recent years, in the past NF-1 was in some cases confused with Legius syndrome , another syndrome with vaguely similar symptoms, including cafe-au-lait spots. NF-1 is an age-specific disease; most signs of NF-1 are visible after birth during infancy , but many symptoms of NF-1 occur as the person ages and has hormonal changes.
NF-1 was formerly known as von Recklinghausen disease, after the researcher who first documented the disorder, Friedrich Daniel von Recklinghausen. The severity of NF-1 varies widely, and little is known about what causes a person to have more severe or less severe symptoms. Even in this last group, symptoms are rarely life-threatening. The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical specialties.
Musculoskeletal abnormalities affecting the skull include sphenoid bone dysplasia, congenital hydrocephalus and associated neurologic impairment. Disorders affecting the spine include:. Deficits in motor function in NF-1 have been long recognised and have been historically attributed to nerve dysfunction. In recent years however, studies suggest NF-1 is associated with a primary problem in muscle function myopathy. Studies in genetically modified mice have thus far confirmed that the NF1 gene is vital for normal muscle development and metabolism.
