MND, MS, Parkinsons+ism Flashcards
what genes can be involved in MND
SOD1 (chromosome 21) , C9orf72
onset MND
males around 60
symptoms MND
UMN: increased tone, hyperreflexia, spasticy weakness // LMN: fasciculations, wasting, hyporeflexia, weakness
what symptoms are spared in MND
eye muscles, cerebellar signs, abdo reflexes
initial symptoms MND
LMN signs + hand wasting
most common MND subtype
amyotrophic lateral sclerosis
symptoms amyotrophic lateral sclerosis
UMN + LMN: hand wasting, weak hands, stumbling, drooling, frontotemporal dementia
where are motor neurones lost in primary lateral sclerosis
motor neurones lost from Benz cells in motor cortex
symptoms primary lateral sclerosis
UMN signs only - mainly affects limbs, spasticity, no cognitive decline
which cells are lost in progressive spinal muscular atrophy
anterior horn cells
symptoms progressive spinal muscular atrophy
LMN signs only - affects distal muscles first, weakness, fasciculations
symptoms progressive bulbar palsy
UMN + LMN: drooling, can’t chew and swallow, can’t talk
invx MND
nerve studies normal // EMG // MRI
mx to slow symptoms MND
riluzole (anti-glutamate)
mx symptoms control MND
drooling: hyoscine // muscle cramps: baclofen, gabapentin // SOB: lorazepam
resp care MND
BIPAP at night
nutritional care MND
PEG
what is MS
autoimmine disorder –> demyelination of CNS (white tracts) disseminated in time and space
who normally gets MS
women, 20-30, higher latitudes (white people), FH: HLA DRB1
what cells are involved in MS
CD4 destruction of oligodendrocytes
presentation MS
TEAM: tingling (pins and needles, numbness, trigem/ // eyes (optic neuritis, Internuclear ophthalmoplegia) // ataxia (tremor, difficulty walking) MOTOR: weakness
general and autonomic symptoms MS
fatigue!! // urinary incontinence, sexual dysfunction, intellectual deterioration
symptoms optic neuritis
common presenting MS feature: painful eye movement + decreased colour saturation
symptoms Internuclear ophthalmoplegia
impaired CN III, IV, VI function // ipsilateral impaired adduction + contralateral nystagmus // horizontal double vision