anterior horn cell disesae Sachen Flashcards
juvenile SMA
kugelberg welander disease
milder than werdnig hoffman
prognosis of ALS
death from respiratry failure, pneumonia, PE
4 yrs
supportive treatment
ALS begins when at degen or what
sporadic or inherit?
20-60
degen of pyramidal (Betz) cells, anterior horn cells, brainstem motor nuclei of lower CNs, corticospinal and corticobulbar tracts
mainly sporadic
intermediate SMA
chronic werdnig hoffman disease
clincial presentation of ALS
gait disorder, limb weakness, speech or swallow difficulty
unexplained weight loss
tongue atrophy and fasiculations
pathophysiology ALS
degen of anterior horn cells and lateral and ventral CST
characterized clinically by progressive wasting and weakness of the affected muscles without accompanying sensory, cerebrellar, or mental changes
motor neuron diseae
what drug may prolong life in ALS pt
riluzol (rilutek)
3-6 months prolongation
motor neuron disease DD
idiopathic toxins infections: west nile and HIV metabolic- a-glucosidase (acid maltase) deficiency familial pompes disease
primary lateral sclerosis
age umn or lmn? clinical progression surviival rate?
50-55 yrs old UMN deficit weakness, spasticity, hyperrelexia, babinski sign slow progression, can eveloe into ALS survival rate better than ALS
progressive SMA
age lmn or umn? symptoms progression? survival rate?
mean age is 64 LMN deficits affecting limbs due to degen anterior horn cells no UMN involvmeent weak, atrophy, resp difficulty, can progress to ALS but usually does not survival rate better than ALS
rule of thumb diagnostic negatives ALS
no sensory symptoms normal mentation no extraocular m involvment bowel or bladder symptoms not there decubiti rare
ALS
EMG CPK CSF imaging study muslce biopsy
emg- widespread denervation and reinnervation
CPK- normal or slight increase
CSF- normal
imaging studies (brain,spine)- normal
muscle biopsy- only needed in confusing cases
infantile SMA
werdnig hoffmann disease
hypotonia, arreflexia, poor suc, breath diff, death 6-12 months
what can a glucosidase (acid maltase) deficiency look like?
ALS
