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FRIEDRICH ATAXIA (S&S (ataxia (arms -> trunk), foot deformities…
FRIEDRICH ATAXIA
S&S
mm weakness
speech problems
heart disease
ataxia
arms -> trunk
begins w/ walking difficulty
foot deformities
club foot, toe flexion, hammer toes, inversion
vision - RAM of eyeballs
cognition remains intact
loss of sensation
decreased tendon reflexes
early clinical sign
spasticity
loss of proprioception
secondary complications
scoliosis
heart disease
diabetes
SOB
dysarthria
auditory neuropathy
investigations
EMG
nerve conduction studies
ECG
ECHO
FBE - often elevated glucose + vitamin E
MRI + CT to rule out other conditions
aims of PT
balance
flexibility
accuracy of movements
maintenance of strength
reducing fatigue
physiology
inherited
recessive
involvement of frataxin protein
FXN gene mutation - responsible for making this
important role in energy production (mitochondria)
provides iron for synthesis of enzymes
storage vessel for iron + releases it only when needed
degeneration of spinal cord + cerbellum
cerebrum relatively spared
symptoms begin 5-15yo
MDT involvement
orthotist
OT
hydrotherapy
outcome measures
modified barthel index
Rx options