Neuro (week 8): ALS

[liveonearth]

aka Lou Gherig's dz


amyotrophic = no muscle nourishment
lateral = areas of spinal cord where nerve portions that signal mm are located
sclerosis = scarring of affected nerves
UMN (spasticity) & LMN (weakness, fasciculations)

progressive
degenerative

SX
mm weakness, clumsiness, hands and feet
trouble with fine mvt, feeding themselves
mm wasting may occur late in course of dz
spasticity
hyperactive reflexes
difficulty communicating
emotional lability
fasciculation, mm cramps esp at night, tongue wiggles
weight loss
onset: teen or later

PROGNOSIS
avg survival 2-5 years-----Steven Hawking is still alive
pts have been known to survive for 40 years with ALS
intelligence is maintained

THREE TYPES
sporadic mc, 90%
familial--10%
Guamian and in other Pacific territories

ETIO
????
infx?
toxins?
oxidative stress/inflam/free radicals
5-10% have inherited defect in superoxide dismutase
in 20% of inheritcd ALS
excess glutamate
mitochondrial dysfunction

PE
atropic weakness of hands and arms
generalized hyperreflexia
normal sensation: hot/cold, sharp/dull etc

DX
of exclusion
MRI and EMG done
EMG = electromyography
genetic testing
electromyogram
but usu dx made by presentation, clinically

DDX
food sensitivities
cervical spondylosis
MS
progressive DM amyotrophyy or polymyositis
post polio syndrome
myasthenia gravis
Guillain Barre
Lyme dz
stroke
neoplasme
Kennedy's dz (spino-bulbar muscular atrophy)

COMPLICATIONS
depression-->suicide
can't feed-->malnutrition
resp failure, asphyxia, pneumonia

TREATMENT
vit E high dose (up to 2000 units, 400 is normal dose)(DrT does 1600)
all other antioxidants in high doses, rotate type monthly, ALA 600mg
HIGH fat diet, good fats, coconut, nuts and seeds, fish, butter, avos
CoQ10 400 and any other mito support
lithium carbonate may slow dz Proc Natl Acad Sci 2008
anti-inflam for glutamate
acupx
pilates, yoga
PT
cochrane review found no help: vit E, acetylcysteine, L-methionine, vit E, Se, etc
CONVENTIONAL TX
Pharm: Riluzole = antiglutamate agent
prolongs survival--modest benefits, only agent with proven efficacy
many other agents have been tried
other antiglutamatergics, trophic factors, immunosuppressants, vits E and E


PROGRESSIVE BULBAR PALSY (PBP)
mostly LMN
mm weak and waste with decr reflexes and normal to decr tone, wt loss, fasciculation
men mostly


ANOTHER CASE
36yo Asian female referred to neurol by surgery after 1wk hx of abd and back pain
on day before referral develop diffic passing urine
tingling and sensory disturbance in trunk and legs
unstead, weak, wide gait
band-like sensation in trunk preceded all this
reduced visual acuity, minimal eye pain 4 weeks prior
phx unremarkable except mild microcytic anemia txd with fe supps that didn't help
reg menses 3 days long light bleed
vitals WNL
neuro: R eye decr acuisty
L eye pale disc margins, normal eye mvs
HGB 10, MCV 67, ferritin 9
workup: MRI (plaques?), nerve conduction study
anemia: renal problem? bone marrow? ?? digestive dz? celiac????? he thinks so
dx: celiac that looks like MS, looks like optic neuritis
gluten was triggering AI process,
tx: when you don't know, try a gluten free diet, helps most and for some it is the cure