Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.

Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported. This study aims to describe a cohort of SCA3/MJD with onset before 12 years of age, comparing their disease progression with the progression observed in patients with usual disease onset. We identified all cases from our cohort whose onset was before adolescence.

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients.

Background: Although aspiration is one of the main causes of death in SCA, such as SCA3/Machado Joseph disease (SCA3/MJD), clinical studies on dysphagia are lacking for these diseases. The aims of this study were to characterize dysphagia in SCA3/MJD through videofluoroscopy (VF) of swallowing, correlate VF with disease severity criteria and weight loss, and determine the clinical criteria cutoffs for performing VF in the clinical routine, in order to detect aspiration.

Methods: A cross-sectional study on 34 SCA3/MJD patients was performed.