Pharmacotherapy for the management of the symptoms of Machado-Joseph Disease. (13th October 2022)

• Record Type: Journal Article
• Authors: Oliveira, Jessica Blanc Leite; Martinez, Alberto R.M.; França Jr, Marcondes Cavalcante
• Is Part Of: Expert opinion on pharmacotherapy. Volume 23:Number 15(2022)
• Page Start: 1687
• Page End: 1694
• Publication Date: 2022-10-13
• Subjects: Machado-Joseph disease -- ataxia -- pharmacological treatment -- dystonia -- parkinsonism; Chemotherapy -- Periodicals; 615.5805
• DOI: 10.1080/14656566.2022.2135432
• Languages: English
• ISSNs: 1465-6566

Abstract

ABSTRACT: Introduction: Machado-Joseph disease or spinocerebellar ataxia type 3 (SCA3/MJD) is the leading cause of autosomal dominant ataxia worldwide. This is a slowly progressive, but very disabling disorder. Ataxia is the main clinical feature, but additional motor and non-motor manifestations may be found. Many of these manifestations are amenable to pharmacological treatments, which may impact the quality of life of affected subjects. Areas covered: Authors review available literature on both disease-modifying and symptomatic pharmacological therapies for SCA3/MJD. Discussion is stratified into motor (ataxic and non-ataxic syndromes) and non-motor manifestations. Ongoing clinical trials and future perspectives are also discussed in the manuscript. Expert opinion: Symptomatic treatment is the mainstay of clinical care and should be tailored for each patient with SCA3/MJD. Management of ataxia is still a challenging task, but relief (at least partial) of dystonia, pain/cramps, fatigue, and sleep disorders is an achievable goal for many patients. Even though there are no disease-modifying treatments so far, recent advances in understanding the biology of disease and international collaborations of clinical researchers are now paving the way for a new era where more clinical trials will be available for this devastating disorder.