Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal

Abstract

This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured interviews were conducted with 11 participants, including patients, family members, healthcare professionals, and care providers. Main findings highlighted the key role played by the local association in psychosocial and healthcare for MJD patients and families, and the adverse effects on their care following the onset of the COVID-19 pandemic. In particular, hindered access to the day-care centre increased isolation and had a negative impact on mental health and disease progression. For persons with a progressive and severe neurological disease, there is no “back to normal.” Future restrictive measures ensuing need to be accompanied by a careful definition of daily care routines for patients.

From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal

“…Direct mutation analysis for MJD has been available since 1995; a national program of PST for MJD was established in Portugal in 1996 (and later extended to all other late-onset neurological diseases), offering genetic counselling and psychosocial support to at-risk individuals and their families (Maciel et al 2001;Sequeiros 1996). The local patient support group Associação Atlântica de Apoio aos Doentes de Machado-Joseph (AAADMJ) was created in São Miguel in 1996 and remains as the only specialized community facility in Portugal dedicated speci cally to MJD families (Couto et al 2022). Currently, there is considerable attention from the MJD community into the prospects of drug development and to the clinical trials that are underway (Lima et al 2003;Duarte-Silva et al 2024).…”