Flashcards in 20 - MN disease Deck (21):
signs of MN degeneration: upper vs. lower
upper = some weakness, normal bulk, no fasiculations, increased tone and reflexes aka spasticity. lower = lots of weakness, atrophy, fasiculations, decreased tone and reflexes
3 anatomic syndromes
UMN = primary lateral sclerosis. LMN = progressive muscular atrophy. upper and lower = ALS
clinical features of ALS? what is affected? what is spared? survival?
muscle wasting, weakness, fasiculations, spasticity, cramps. limb, bulbar and respiratory affected. spared: sensation, sphincter function. 2 - 5 years.
bulbar clinical features
speech. chewing. swallowing. coughing, chocking, excess saliva. weight loss. dehydration.
lower extremity clinical features
foot drop. difficulty with chairs and stairs
upper extremity clinical features
hand: find motor activities like writing. shoulder: frozen shoulder, proximal arm weakness. axial: stooped posture
respiratory clinical features
dyspnea aka shortness of breath. orthopnea aka difficulty breathing when lying down. sleep disordered breathing
cognitive clinical features? prevalence? results?
frontotemporal: executive dysfunction and behavioural impairment. up to 50%. impacts decision making capacity + reduced survival.
VBM in findings in ALS?
decreased grey matter volume in motor cortex, frontal and temporal lobes
MRS findings in ALS?
decreased NAA (neuronal marker). increased glial marker mI. decrease NAA to mI ratio. so degeneration, but increase glia.
extra-motor pathology: where?
frontotemporal lobar degeneration
spectrum of ALS and FTD: linked by?
molecular link: ubiquinated cytoplasmic inclusions in FTD and ALS both contain TDP 43 protein
most common genetic cause
MRI findings for ALS?
qualitative: low sensitivity + specificity but will see atrophy, hyperintensity of corticospinal tract and hypointense ribbon in motor cortex
goal of disease management?
maximize quality of life + death
disease modifying treatment: drug name? effect?
riluzole: antiglutamatergic, prolongs survival 3 - 6 months
3 important interventions in ALS
BiPAP (ventilation). PEG (feeding tube). multisiciplinary care.
ceftriaxone: what? effects?
beta-lactam antibiotic: stimulates glutamate transporter. didn't work in clinical trials but had been promising in in vivo/vitro neuroprotection
no effective treatment yet...what is required?
objective, sensitive + indirect measure of disease burden and drug efficacy: biomarkers
take home: ALS is a ___ disease? what poses challenges to finding treatment?
multisystem disease. clinical and pathogenic heterogeniety pose challenges to finding treatment.