Pharmacotherapy for the management of the symptoms of Machado-Joseph Disease

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.