Rigid spine syndrome: vacuolar variant multimodal evoked potentials.
BACKGROUND
Overt or covert central nervous system (CNS) abnormalities have been reported in various primary muscle diseases, including congenital muscular dystrophies.


OBJECTIVE
To ascertain by neurophysiologic techniques evidence of CNS dysfunction in a relatively large, homogeneous group of patients with the "vacuolar variant" of the rigid spine syndrome (RSS).


METHODS
Standard evoked potential (EP) techniques were used to study the visual, auditory and somatosensory pathways in patients with RSS.


RESULTS
Abnormal values were recorded in 78% (7/9) of patients, specifically of visual pathways (2/9), brainstem auditory pathways (2/9), and somatosensory pathways (5/9), and the retina (1/9). Abnormal findings were not correlated with clinical measures of patient age, disease duration nor degree of weakness.


CONCLUSIONS
Electrophysiological studies showed that the CNS is not primarily involved in any disease process that underlies this congenital myopathy. There were reasonable other explanations for most abnormal measurements.
Department of Neurology, University of Pretoria, South Africa. pstuebge@med.cornell.edu
Joerg-Patrick
JP
Stübgen
D000293:Adolescent; D000328:Adult; D016477:Artifacts; D002490:Central Nervous System / Q000503:physiopathology*; D002648:Child; D003286:Contracture / Q000209:etiology / Q000503:physiopathology*; D004568:Electrodiagnosis; D004596:Electroretinography; D005071:Evoked Potentials; D016057:Evoked Potentials, Auditory, Brain Stem; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology*; D011930:Reaction Time; D013131:Spine / Q000503:physiopathology*; D013577:Syndrome; D013979:Tibial Nerve / Q000503:physiopathology; D014617:Vacuoles