Gene testing may be useful when trying to ascertain which non-symptomatic family members may be at risk of developing polyps, however having a known familial mutation would be unlikely to change the course of treatment. A known mutation may also be of use for affected individuals when they decide to start a family as it allows them reproductive choices.While mutations in the gene PTEN were also thought to have caused juvenile polyposis syndrome, it is now thought that mutations in this gene cause a similar clinical picture to juvenile polyposis syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN hamartoma tumor syndrome. Screening
People with juvenile polyps may require yearly upper and lower endoscopies with polyp excision and cytology. Their siblings may also need to be screened regularly. Treatment
Malignant transformation of polyps requires surgical colectomy. Prognosis
Most juvenile polyps are benign; however, malignancy can occur. The cumulative lifetime risk of colorectal cancer is 39% in patients with juvenile polyposis syndrome. References
Further reading
Larsen Haidle J, Howe JR (September 29, 2011). Juvenile Polyposis Syndrome. University of Washington, Seattle. PMID 20301642. NBK1469. In Pagon RA, Bird TD, Dolan CR,  et al., eds. (1993). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle. PMID 20301295. == External links ==
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain. PKAN is caused by loss of function of the enzyme PANK2, due to bi-allelic genetic mutations. It follows autosomal recessive inheritance. This enzyme is the first step in the pathway converting vitamin B5 into coenzyme A. There are currently no treatments that modify disease progress, though there are a number of medications and therapies that can help improve symptoms and there is active research into treatments. Signs and symptoms
Symptoms typically begin in childhood and are progressive, often resulting in death by early adulthood. Symptoms of PKAN begin before middle childhood, and most often are noticed before ten years of age. Symptoms include:
dystonia (repetitive uncontrollable muscle contractions that may cause jerking or twisting of certain muscle groups)
dysphagia & dysarthria due to muscle groups involved in speech being involved
rigidity/stiffness of limbs
tremor
writhing movements
dementia
spasticity
weakness
seizures (rare)
toe walking
retinitis pigmentosa, another degenerative disease that affects the individuals retina, often causing alteration of retinal color and progressive deterioration of the retina at first causing night blindness and later resulting in a complete loss of vision.25% of individuals experience an uncharacteristic form of PKAN that develops post-10 years of age and follows a slower, more gradual pace of deterioration than those pre-10 years of age.