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

Expert Opin Pharmacother. 2022 Oct;23(15):1687-1694. doi: 10.1080/14656566.2022.2135432. Epub 2022 Oct 19.


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.

Keywords: Machado-Joseph disease; ataxia; dystonia; parkinsonism; pharmacological treatment.

MeSH terms

  • Ataxia
  • Fatigue
  • Humans
  • Machado-Joseph Disease* / diagnosis
  • Machado-Joseph Disease* / drug therapy
  • Quality of Life
  • Sleep Wake Disorders*