Clinical features of spinal and bulbar muscular atrophy
Open Access
- 21 October 2009
- journal article
- research article
- Published by Oxford University Press (OUP) in Brain
- Vol. 132 (12), 3242-3251
- https://doi.org/10.1093/brain/awp258
Abstract
Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed disease. We also administered self-assessment questionnaires for activities of daily living, quality of life and erectile function. We found an average delay of over 5 years from onset of weakness to diagnosis. Muscle strength and function correlated directly with serum testosterone levels and inversely with CAG repeat length, age and duration of weakness. Motor unit number estimation was decreased by about half compared to healthy controls. Sensory nerve action potentials were reduced in nearly all subjects. Quantitative muscle assessment and timed 2 min walk may be useful as meaningful indicators of disease status. The direct correlation of testosterone levels with muscle strength indicates that androgens may have a positive effect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effects described in animal models.Keywords
This publication has 35 references indexed in Scilit:
- Standard and modified statistical mune evaluations in spinal‐bulbar muscular atrophyMuscle & Nerve, 2009
- CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMABrain, 2007
- An investigation of the relationship between sex‐steroid levels and urological symptoms: results from the Boston Area Community Health surveyBJU International, 2007
- The Feasibility of Six-Minute and Two-Minute Walk Tests in In-patient Geriatric RehabilitationCanadian Journal on Aging / La Revue canadienne du vieillissement, 2007
- Pathogenesis, animal models and therapeutics in Spinal and bulbar muscular atrophy (SBMA)Experimental Neurology, 2006
- Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patientsBrain, 2006
- Quality of life in elderly men with androgen deficiencyAndrologia, 2006
- The use of statistical MUNE in a multicenter clinical trialMuscle & Nerve, 2004
- Using the SF-36 measure to compare the health impact of multiple sclerosis and Parkinson's disease with normal population health profilesJournal of Neurology, Neurosurgery & Psychiatry, 2003
- Founder effect in spinal and bulbar muscular atrophy (SBMA) in ScandinaviaEuropean Journal of Human Genetics, 2000