Pathophysiology of Spinal Muscular Atrophy

Spinal muscular dystrophy is a neuromuscular disorder characterised by muscle weakness and atrophy due to the degeneration of the motor neurons. Using the combination of novel peripheral axonal excitability and cortical excitability testing, the assessment of the entire motor neurological axis is possible in people with spinal muscle atrophy. Together these studies may assess the pattern of involvement of different neuronal processes in disease and enhance the understanding of the disease pathophysiology. These studies are being developed to potentially monitor disease progression and the response to potential therapies.

Key researchers 
michelle.farrar

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