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18 | InTouch SPRING 2026 WHAT IS NEUROFIBROMATOSIS TYPE 1? In 90% of cases the mutation is a single letter change or a very small deletion or insertion in the NF1 gene. In 5% of cases a larger deletion has occurred involving the whole gene. Genetics We each have two copies of the neurofibromin gene in each cell. To be affected with the condition only one copy needs to be defective. Around half of all people diagnosed with NF1 will have one parent who also has the condition. This type of inheritance pattern is called Autosomal Dominance. The other half are thought to have a new mutation (they are the first person in their family with the faulty gene). Diagnosis The diagnosis of NF1 is clinical and is made when someone fulfils specific NIH clinical criteria for NF1. Some of these criteria are age dependent as it is variable depending on their clinical manifestations. Management Lifelong surveillance of blood pressure is very important in managing NF1Neurofibromatosis Type 1. Management also involves educating families with NF1 about their condition and what to look out for and report to their GP and an annual physical examination by a physician familiar with NF1. In childhood this would usually be their paediatrician. Management would involve blood pressure monitoring, annual ophthalmic assessments, spinal checks and developmental assessment. Extra help in school may be needed to allow youngsters to fulfil their full potential. Adults should see their GP annually for blood pressure monitoring and there should be a low threshold for thorough investigation of hypertension as there is an increased risk of not only essential hypertension but also renal artery stenosis and rare endocrine tumours called phaeochromocytomas. Anyone with NF1 should report any rapid change in their lumps or onset of pain in them or any neurological symptoms promptly so that their doctor can organise appropriate imaging and specialist assessment. Routine imaging is not recommended. A referral to a clinical geneticist shortly after diagnosis is strongly recommended to discuss the condition in more depth, consider rarer disorders which can be confused with NF1 and to offer assessment of other family members and discuss risks and options when planning a family. It is also very helpful for teenagers with NF1 to be referred again to genetics services just before they leave school for genetic counselling and advice. To speak to us about leaving a gift in your will, please email info@mda.org.nz We have been helping Kiwi families for more than 60 years and by making a bequest, you are ensuring the sustainability of our organisation so that we can continue to be there for generations to come. Any bequest, no matter what size, will directly help those living with muscle wasting neuromuscular conditions, and enable us to continue our work within your community. Your good will benefits families Continued from previous page. A referral to a clinical geneticist shortly after diagnosis is strongly recommended to discuss the condition in more depth.