Clinical and Genetic Analysis of Spinal Muscular Atrophy
Status: Open to Enrollment
Start Date: Feb 27 2004
End Date: OPEN
We are studying electrophysiological and clinical techniques to help us better follow the course of patients with SMA, particularly as it relates to the primary disease process causing weakness, motor neuron dysfunction and loss. These include electrophysiologic techniques to study and follow the course of motor neuron loss, clinical and laboratory assessments which will help accurately assess functional motor outcomes of patients, DEXA scanning as a measure of changes in lean muscle mass over time, and investigation of genetic mechanisms which influence the severity of phenotype.
Infants, children and adults with Spinal Muscular Atrophy and their family members are eligible for this study
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