Abstract
Background:
Spinocerebellar ataxias (SCA) are a rare group of neurodegenerative disorders. Machado–Joseph disease (MJD) is the most prevalent autosomal dominant ataxia. No disease-modifying treatment exists; thus, a palliative approach is recommended upon diagnosis.
Objective:
The objective of this study is to describe the first cohort of MJD patients followed by a palliative care team. We aimed to describe the main symptoms experienced by patients with advanced MJD and detail the multidisciplinary approaches employed to enhance their quality of life.
Methods:
We retrospectively analyzed patients with SCA referred to the palliative care unit (PCU) at Hospital do Divino Espírito Santo de Ponta Delgada. Data collected from June 1, 2016, to February 29, 2024, included demographic characteristics, functional status, Edmonton Symptom Assessment Scale scores, medication use, alternative feeding methods, advanced care planning documentation, interdisciplinary interventions, and hospital admissions. Statistical analysis was performed using nonparametric tests.
Results:
The median follow-up duration was five years, and the median disease duration was 18.5 years. Swallowing difficulties, constipation, depression, and insomnia were the most frequent symptoms. Insomnia was statistically more prevalent among the MJD group. The mortality rate was 30%, and 55% of deaths were related to disease progression. The deceased group had a longer disease duration and follow-up than the survival group.
Conclusions:
To the best of our knowledge, this is the first cohort description of MJD patients followed by a PCU. We found that swallowing difficulties, constipation, depression, and insomnia were the most frequent symptoms. In addition to pharmacological treatment, interdisciplinary approaches played a central role in addressing the needs of this cohort of patients with advanced MJD.
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