Clinical Signs/Symptoms
Fibrillations, hypotonia, fasciculations, hyporeflexia, flaccid paralysis
What are lower motor neurons signs
What are the 3 things a physician must see before making a clinical diagnosis of ALS?
- UMN lesion
- LMN lesion
- spread of sx to other parts of the body over months/years
What are the two life threatening manifestations of ALS?
What is neuromuscular respiratory failure and dysphagia
Majority of familial cases of ALS have this inheritance pattern.
Autosomal dominant
These are the neurons that are damaged in ALS
What are UMNs and LMNs
Spasticity, clonus, hyperreflexia, (+) Babinski
What are upper motor neuron signs
What does an EMG do?
It measures the electrical activity of muscle fibers. No single abnormality is diagnostic of a single disease process, but findings from an EMG can support a clinical diagnosis.
What is the proper management of neuromuscular respiratory failure?
What is NPPV- Noninvasive positive pressure ventilation
Enzyme that helps breakdown free radicals
Superoxide Dismutase 1 (SOD1)
These are the UMN pathways affected in ALS
What are the cortiospinal and corticobulbar tracts
These symptoms are not typically associated with ALS
What are sensory symptoms (i.e. bowel/bladder deficits, ocular muscular deficits)
Why was the UCSF screening battery used instead of the MMSE?
The UCSF screening battery can be easily adapted for pts w/impairments found in ALS (motor, speech)
What is the proper management for dysphagia?
What is gastrostomy tube insertion
Most common genetic mutation
C9ORF72
Hallmark histologic change seen in ALS
What are Bunina Bodies?
Over time, patients will develop both of these
UMN and LMN lesions/signs
Why was an MRI given to our patient? and what did it show?
It showed nothing! - It is used to exclude other possible diagnoses in the evaluation of suspected ALS
What are the three mechanisms of Riluzole?
What is (NMDA) receptor antagonist, inhibition of glutamic acid release, or direct action on the voltage-dependent sodium channel
Can present with both ALS and Frontotemporal Lobe Degeneration
C9ORF72
Process of astrocyte proliferation in areas of neuronal cell loss
What is reactive gliosis
Early symptoms (i.e. dysarthria, dysphagia) do not typically originate in this region
What is the cranial/bulbar region?
What is seen on an EMG for a patient with ALS?
fibrillations and positive sharp waves
What is one drug that treats the muscle spasm seen in ALS and one drug that treats the spasticity seen in the lower limbs in ALS, respectively?
What is:
1. Mexiletine, a sodium channel blocker
2. Baclofen- Inhibits the transmission of both monosynaptic and polysynaptic reflexes
Missense mutation
The nucleotide sequence of the most common mutation
What is GGGGCC