Palliative Care Approaches in Machado–Joseph Disease
Bibliographic record
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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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".