Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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April 23, 2012
Amyotrophic Lateral Sclerosis (ALS)
- Also known as motor neuron disease or Lou Gehrig's disease.
- Variable presentation delays making the diagnosis. Symptoms include upper motor neuron signs (hyper-reflexia, spasticity); lower motor neuron signs (weakness, atrophy, fasciculations); and bulbar signs (dysphagia and slurred speech).
- Diagnosis is based on the revised El Escorial Criteria and requires upper and lower motor neuron signs, progression of the disease, and exclusion of other potential causes for patients symptoms by electrophysiological testing and imaging studies.
- Most cases are sporadic. About 5-10% of cases are inherited, and of these, superoxide dismutase (SOD1) gene mutations account for 20% of these cases.
- Key Diagnostic Features: Conventional MRI is important for ruling out other potential etiologies. It may be normal or may suggest the diagnosis. 15-75% of ALS cases will have FLAIR hyperintensity along the corticospinal tracts. Other findings include low T2 signal (iron deposition) along the cortex of the pre-central gyrus, and atrophy. Advanced MR techniques include spectroscopy, magnetization transfer imaging, DTI, and functional MRI may aid in diagnosis, monitoring, and understanding the pathophysiology of ALS.
- Supportive, plasmapharesis
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