Patients' Perspective in Hereditary Ataxia.

ABSTRACT: Hereditary ataxia represents a heterogeneous group of rare disorders with the chronic progression of motor symptoms that often become debilitating. Many forms include additional neurological, cognitive, or other symptoms. Most of these disorders lack specific treatment. We aimed to investigate aspects of patients' quality of life, experiences, and expectations. Patients with a diagnosis of hereditary ataxia were identified from our center's diagnostic register, direct referrals, and from a patient organization. We designed a questionnaire with 32 multiple-choice or open-ended questions on disability and impairment of daily life activities, the perceived effect of symptomatic and supportive therapies, coping strategies, and how they used and experienced various sources of information about

SUBMITTER: Gorcenco S 

PROVIDER: S-EPMC10864479 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature