Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of neurofibromin, a gene on chromosome 17 that is responsible for production of a protein which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system which can grow anywhere on the body. NF-1 is one of the most common genetic disorders and is not limited to any persons 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-1.As of 2015, there are at least 100,000 people in the U.S. and about 10,000 people in the UK who have been diagnosed with NF. Common symptoms of NF-1 include brownish-red spots in the colored part of the eye called Lisch nodules, benign skin tumors called neurofibromas, and larger benign tumors of nerves called plexiform neurofibromas, scoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple café au lait spots and epilepsy. NF-1 affected individuals also have a much higher rate of cancer and cardiovascular disease than the population in general.NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy).
Extreme temperatures have also been reported as risk factor for RSI. Risk factors
Occupational risk factors
Workers in certain fields are at risk of repetitive strains. Most occupational injuries are musculoskeletal disorders, and many of these are caused by cumulative trauma rather than a single event. Miners and poultry workers, for example, must make repeated motions which can cause tendon, muscular, and skeletal injuries. Jobs that involve repeated motion patterns or prolonged posture within a work cycle, or both, may be repetitive. Young athletes are predisposed to RSIs due to an underdeveloped musculoskeletal system. Psychosocial factors
Factors such as personality differences to work-place organization problems. Certain workers may negatively perceive their work organization due to excessive work rate, long work hours, limited job control, and low social support. Previous studies shown elevated urinary catecholamines (stress-related chemicals) in workers with RSI. Pain related to RSI may evolve into chronic pain syndrome particularly for workers who do not have supports from co-workers and supervisors. Non-occupational factors
Age and gender are important risk factors for RSIs. The risk of RSI increases with age. Women are more likely affected than men because of their smaller frame, lower muscle mass and strength, and due to endocrine influences. In addition, lifestyle choices such as smoking and alcohol consumption are recognizable risk factors for RSI. Recent scientific findings indicate that obesity and diabetes may predispose an individual to RSIs by creating a chronic low grade inflammatory response that prevents the body from effectively healing damaged tissues. Diagnosis
RSIs are assessed using a number of objective clinical measures.