Abstract
Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress over time, their impact on the person with ataxia is less well understood. In addition, little is known about how carers, friends and families are affected by them. This paper aims to provide preliminary information on the presence and impact of medical symptoms and day-to-day challenges on people with ataxia and their friends and relatives. Data were extracted from a survey by Ataxia UK for their members. The views of 366 people with ataxia and 52 friends and relatives are reported. Data were analysed for the entire groups, as well as for the three most common ataxia types represented in the sample, Friedreich's ataxia, inherited ataxia (excluding Friedreich's ataxia), and cerebellar ataxia of unknown cause. The survey confirmed the symptom patterns described in previous research, but further showed that the impact of these symptoms can vary across ataxia populations. Similar findings were observed for day-to-day challenges. Friends and relatives experienced similar challenges to people with ataxia, indicating that support provided has to consider those supporting people with ataxia as well as the patient. Respondents also highlighted limitations in terms of accessing support services, and not all services were able to cater fully to their specific needs. This study begins to provide information that can be used in further research to explore the needs of people with ataxia and their carers, friends, and relatives. Such research will support treatment trial design, ensuring patients' needs are considered, help to tailor support services to their needs, and ensure health care professionals have the necessary skills to fully address them.
Highlights
Ataxia refers to a constellation of symptoms and signs resulting from damage to the cerebellum
Spinocerebellar ataxia type 6 (SCA6) presents later on in life and unlike Friedreich’s ataxia (FRDA) it is a pure ataxia without associated extracerebellar features
It was distributed to the entire membership of Ataxia UK, which consisted of approximately 4500 households in July 2016, who were invited to pass the survey information on to others in their social circle to increase the response rate
Summary
Ataxia refers to a constellation of symptoms and signs resulting from damage to the cerebellum. The most common genetic ataxia in the UK is thought to be Friedreich’s ataxia (FRDA)[1], an autosomal recessive, early onset (under 20 years of age) ataxia that frequently results in severe disability with wheel-chair dependency and limited lifespan. It is associated with cardiac (cardiomyopathy), spinal (scoliosis) and endocrine (diabetes) dysfunction, making it a truly multi-system disorder. This paper aims to provide preliminary information on the presence and impact of medical symptoms and day-to-day challenges on people with ataxia and their friends and relatives. Such research will support treatment trial design, ensuring patients’ needs are considered, help to tailor support services to their needs, and ensure health care
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