Managing symptoms and improving the quality of life of persons with Machado-Joseph disease

Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is the commonest autosomal dominant ataxia worldwide. It is a progressive neurodegenerative disorder with a complex and heterogeneous phenotype that extends far beyond ataxia. Motor and non-motor manifestations lead to a negative impact on quality of life. Despite this, many of these manifestations are amenable to pharmacological interventions.

The current review addresses both disease-modifying and symptomatic therapies for SCA3/MJD. We discuss data on pharmacological and non-pharmacological treatment options for motor and non-motor symptoms of the disease. This narrative review is based on identified literature related to SCA3/MJD and is available on PubMed, Scopus and LILACS.

There is no currently approved disease-modifying therapy for SCA3/MJD, albeit some recent clinical trials have disclosed encouraging results. The mainstay of clinical care currently relies upon management of symptoms, either using pharmacological or non-pharmacological strategies. Symptomatic treatments for some SCA3/MJD-related manifestations, such as dystonia and cramps, have been tested in controlled studies. For other manifestations, pharmacotherapy is chosen based on empirical evidence and/or experts' opinion. Therefore, better understanding of the natural history of the disease should pave the way for therapeutic discoveries.