Objective:

To determine the frequency and relative importance of symptoms experienced by patients with spinal and bulbar muscular atrophy (SBMA) and to identify the modifiable factors that have the greatest effect on severity of symptoms 

Background:

SBMA is an inherited motor neuron disease caused by a CAG-repeat expansion in the androgen receptor gene on the X chromosome. Variations in the disease onset and progression have been observed. Evaluation of disease burden is important for assessing the efficacy of candidate therapeutics and may be useful for regulatory approval. In addition, the evaluation of disease burden provides valuable information for improving patient care 

Design/Methods:

We conducted an international cross-sectional study of 232 patients with SBMA. Participants provided input regarding 18 themes and 208 symptoms that affect SBMA patients. Participants were asked about the relative importance of each symptom, and an analysis was done to determine how age, education, disease duration, CAG repeat length, and ambulation status relate to symptom prevalence

Results:

Hip, thigh, or knee weakness (96.5%), fatigue (96.5%), problems with hands and fingers (95.8%), and limitations with walking were themes that had high prevalence in the study population. Ambulatory status was associated with 9 of the 14 themes, and CAG repeat length and education were each associated with 4 of 14 themes. The prevalence of fatigue was reduced in those with lower CAG repeat length and increased with longer disease duration. Younger patients reported a higher prevalence of emotional issues 

Conclusions:

There are a diversity of themes that are important to patients with SBMA. These themes have a variable level of importance to the SBMA population and represent factors for assessment in future therapeutic interventions