Studies Of Hereditary Neurological Disease: Clinical Trials

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To determine the frequency and relative importance of symptoms experienced by patients with spinal and bulbar muscular atrophy (SBMA) we conducted a cross-sectional study of 232 participants with the disease. Participants provided input regarding 18 themes and 208 symptoms that affect SBMA patients. Participants were asked about the relative importance of each symptom, and analysis was done to determine how age, education, disease duration, CAG repeat length, and ambulation status relate to symptom prevalence. Hip, thigh, or knee weakness (96.5%), fatigue (96.5%), problems with hands and fingers (95.7%), and limitations with walking (95.7%) were the themes with the highest prevalence in the study population. Ambulatory status was associated with the prevalence of 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 a lower CAG repeat length and increased with a longer disease duration. Younger patients reported a higher prevalence of emotional issues. Overall, we identified a diversity of themes that are important to patients with SBMA. These themes represent clinically meaningful outcome measures for future therapeutic interventions.