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16 | InTouch AUTUMN 2024 frataxin. Frataxin is normally found in energy-producing parts of cells called mitochondria and is especially plentiful in the brain, spinal cord, heart, and pancreas. When frataxin levels are low, cells cannot produce energy properly and the build-up of toxic by-products leads to“oxidative stress”, which has the potential to destroy cells. Friedreich Ataxia is an autosomal recessive disorder. This means that an affected individual has inherited two copies of an abnormal chromosome 9 gene, one from each parent. People with only one defective gene in the pair are called carriers. Carriers are not affected by the disease but can pass the abnormal gene onto their children. A child who is born to two carrier parents has a 25% chance of inheriting both affected genes and developing the disease. There is a 50% chance of inheriting only one of the abnormal genes from two carrier parents, which would then make that child a carrier. Diagnosis of Friedreich Ataxia Diagnosis usually commences after the identification of key characteristics of FA. Several tests may be done when the diagnosis is suspected in order to find supporting evidence for FA and/or to rule out other types of hereditary ataxias or neurologic conditions. Genetic testing, however, is the cornerstone of diagnostic confirmation. Physical Examination – test of reflexes and sensory responses Electromyography (EMG) – an observation of the electrical activity of muscles Nerve Conduction Studies – a measure of the speed with which nerves transmit impulses, often done in conjunction with EMG Nerve or Muscle Biopsy – uncommon, but may be done if other neuromuscular disorders are initially suspected MRI (magnetic resonance imaging) or CT (computed tomography) scan – evaluation of the extent of atrophic changes in the brain and spinal cord Electrocardiogram (ECG) – a graphic presentation of the electrical activity or beat pattern of the heart to look for heart abnormalities Blood and Urine Tests – evaluate for abnormal glucose levels for monitoring of diabetes or measure no known cure for Friedreich Ataxia. Treatment focuses on the prevention and management of symptoms and accompanying complications to help maintain optimal functioning as long as possible. From an early stage, it is important to undergo regular exercise and stretching programmes, with the help of a physiotherapist, to maintain muscle strength, core stability, and range of motion. Swimming is an excellent option to exercise and mobilize all muscles and joints. A good diet with plenty of fresh fruit and vegetables is very important in ensuring excessive weight does not FRIEDREICH ATAXIA From an early stage, it is important to undergo regular exercise and stretching programmes, with the help of a physiotherapist, to maintain muscle strength, core stability, and range of motion. vitamin E levels to rule out a different type of hereditary ataxia Soon after a diagnosis of Freidreich Ataxia is received in a family, it is essential that genetic counselling is arranged. The purpose of genetic counselling is to increase a family’s understanding of the inheritance of the disease and to assess the risk for other family members or future offspring to carry or express FA. Genetic counsellors can provide information about possible diagnostic tests, including prenatal testing. Genetic services in NZ are available and a referral can be made by the MDA. Management of Friedreich Ataxia As with many degenerative diseases of the nervous system, there is currently impede mobility or hasten the onset of diabetes. Some individuals with FA may experience bowel spasticity, and diet modification to avoid constipation or diarrhoea is beneficial in these cases. Consultation with a physician and/or a nutritionist is valuable for this. General health monitoring for infection, pain, constipation, diarrhoea, dehydration, and pressure sores is essential, as all of these can exacerbate symptoms of FA (spasticity and ataxia). Annual monitoring for the development of diabetes is also recommended. Gait aids may be used for ambulant people with FA who are at risk of falling. Customized orthotics, such as lateral ankle support braces or ankle-