Friedreich ataxia (FRDA), a multisystem autosomal recessive disease, is the most common inherited ataxia, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA include progressive ataxia, spasticity, absent lower limb reflexes, impaired vibration sense and proprioception, scoliosis, foot deformity and cardiomyopathy. Despite significant progress in the search for disease modifying agents, the chronic, progressive nature of FRDA continues to have a profound impact on the health and well-being of people with FRDA. At present there is no proven treatment that can slow the progression or eventual outcome of this life-shortening condition.

Mean age of symptom onset in FRDA is 10 to 15 years. Whilst the large majority of individuals present with gait ataxia, less typical presenting neurologic symptoms include spastic paraparesis, sensory neuropathy, tremor, dysarthria, and chorea. Some individuals present with scoliosis or cardiomyopathy, which can predate the onset of neurologic symptoms by a number of years, leading to a delay in diagnosis. 

There are approx. 71 people living in NZ with FRDA. Some were attending clinics in Australia for assessment/monitoring and research data gathering.

In 2018/2019 there will be a clinic located in Auckland university for the clinic, patients will have a variety of clinical assessments. As with the questionnaires, all patients will be asked to take part in a small range of generalised clinical assessments so that comparisons can be made between patients who have different conditions, but then also have disease specific assessments. These assessments will be a range of physiotherapy, occupational therapy, speech and language therapy, audiological and medical assessments.

Using the assessments our expert clinicians will devise a management plan for the patients. This plan will, with the patient’s permission, be communicated directly to their doctor and or local allied health provider.

A large part of this clinic is to enable the development of experienced and supported clinicians across NZ in clinical management of this condition.

You will find resources in regards to FRDA on the www.duncanfoudation.org  site. 

The Duncan Foundation and the NZ physiotherapy Neuro special interest group are providing grants for the provision of allied health support of this NZ Research and Rehab clinic.

If you are involved with a person with FRDA or are a person with FRDA and would like to have an assessment and/or be a part of the Research and Rehab clinic.

You may contact me – Julie Rope on julie@ropeneurorehab.co.nz 021753279

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