10. Clinical presentation
• Middle age
• Male predilection
• Autosomal dominant ( some sporadic )
• Significant progressive loss of muscle strenght.
• Intellectual and sensory function preserved
• Death usually in 2 to 6 years from respiratory
complications.
11. Death of motor neurons.
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).
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.
12. Key Diagnostic Features: t
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.
Treatment
Supportive, plasmapharesis
