Abstract
Elucidating patients´ experiences of living with chronic progressive hereditary ataxia and the symptomatic treatment with intrathecal baclofen (ITB) is the objective of the current study. A multicenter qualitative study with four patients included due to the rare combination of hereditary ataxia and ITB therapy was designed to elucidate participants’ experiences through semi-structured interviews. The transcribed text was analyzed according to content analysis guidelines. Overall we identified living in the present/ taking one day at a time as the main theme covering the following categories: 1) Uncertainty about the future as a consequence of living with a hereditary disease; The disease; 2) Impact on life as a whole, 3) Influence on personal life in terms of feeling forced to terminate employment, 4) Limiting daily activities, and 5) ITB therapy, advantages, and disadvantages. Uncertainty about the future was the category that affected participants’ personal life, employment, and daily activities. The participants’ experience of receiving ITB therapy was expressed in terms of improved quality of life due to better body position and movement as well as better sleep and pain relief.
Highlights
Living with a chronic progressive neurologic disease such as hereditary ataxia has a great impact on the quality of life of patients
The molecular, pathologic and clinical features of hereditary ataxias have been extensively described in the literature [1,2,3,4,5]
The predominant clinical features include cerebellar ataxia as the initial symptom and variable pyramidal degeneration leading to weakness and lower limb spasticity [5]
Summary
Living with a chronic progressive neurologic disease such as hereditary ataxia has a great impact on the quality of life of patients. Qualitative studies in hereditary ataxias are sparse [6, 7] and the patients’ experiences of intrathecal baclofen (ITB) therapy, a rare treatment in this patient category have not been reported earlier. Friedreich Ataxia (FRDA) is the most common form of autosomal recessive cerebellar ataxia [8], whereas spinocerebellar ataxia type 3 (SCA3)/Machado Joseph disease and spinocerebellar ataxia type 7 (SCA7) are inherited in an autosomal dominant manner [2, 9]. The predominant clinical features include cerebellar ataxia as the initial symptom and variable pyramidal degeneration leading to weakness and lower limb spasticity [5].
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