Patient perspective in hereditary ataxia

Background: Hereditary ataxia is a group of rare disorders. Healthcare
providers and public authorities may have limited knowledge about this
diagnosis. We asked the patients if they feel well-informed about the
diagnosis and whom they usually turn to for support.
Methods: Adult patients with a diagnosis of progressive cerebellar ataxia
were identified in the diagnosis register of Scania region or were recruited
through a patient organization. All patients were examined clinically. A
survey with 32 multiple choice and open-ended questions was distributed
through a secure online tool. Written and informed consent was obtained
from every participant. Our study is ethically approved.
Results: Participants (N¼79) were aged between 22 and 80 years, onset
varied from 1 to 73 years. The most common symptom at onset was
“impaired balance”. The SARA score median was 10 (SD 9,06). Progress was
described as slow by 87,3% (N¼69). Genetic testing was recalled by 56,9%
(N¼45) of which 38% (N¼30) received a genetic diagnosis. Among patients
who had a genetic diagnosis, 76.7% felt “well-informed” (36.7%) or “partly
well informed” (40.0%) about their diagnosis. Among patients who did not
have a genetic diagnosis, 59.2% felt (fully: 22.4%; partly: 36.7%) wellinformed.
This difference did not reach statistical significance (Pearson Chi-
Square 0,17, Cramer’s V 0,2). On the question “what helps you feel better?”, “exercise” was the predominant answer 40,5% (N¼ 32) followed by “social
support from close family” and “medication”. Patients answered that close
family and friends is the first instance they turn to for moral support (N¼62).
Conclusions: This patient-perspective study on hereditary ataxia highlights
the need to improve the disease-related information that health
service providers give to their patients, even when the exact genetic
subtype has been established. Physiotherapy and support from close
family are important for the wellbeing of patients with hereditary ataxia.