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. 2009 Dec;132(Pt 12):3242-51.
doi: 10.1093/brain/awp258.

Clinical features of spinal and bulbar muscular atrophy

Lindsay E Rhodes  1 , Brandi K Freeman, Sungyoung Auh, Angela D Kokkinis, Alison La Pean, Cheunju Chen, Tanya J Lehky, Joseph A Shrader, Ellen W Levy, Michael Harris-Love, Nicholas A Di Prospero, Kenneth H Fischbeck
Affiliations

Clinical features of spinal and bulbar muscular atrophy

Lindsay E Rhodes et al. Brain. 2009 Dec.

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.

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Figures

Figure 1
Figure 1
The statistical MUNE study was performed on the abductor pollicis brevis of healthy controls (n = 24) and SBMA patients (n = 52). The SBMA subjects tested had a mean median CMAP of 6.3 ± 3.1 mV. The MUNE data from the SBMA patients were adjusted to exclude single motor unit potentials less than 40 µV (Lehky et al., 2009). Control subjects had a mean age of 55 ± 8 years (42–69 years) and a mean median CMAP of 9.7 ± 2.8 mV. The control subjects did not have any small motor unit potential values less than 40 µV, therefore no further adjustment of the MUNE data were needed.
Figure 2
Figure 2
(A–D) Correlation of QMA scores with CAG repeat length, age, duration of weakness and total testosterone levels. The values shown are for total weight-scaled QMA (right plus left).
See this image and copyright information in PMC

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