Flashcards in Fredreich's ataxia/ Charcot Marie tooth Deck (20):
What is Fredreich'a Ataxia?
A Spinocerebellar spinal disorder
What is the Fredreich'a Ataxia genetics?
effects the FRATXIN GENE
What is Frataxin?
Iron binding protein
low levels -> increase iron levels in mitochondria -> damage to proteins?
What do Fredreich'a Ataxia patients present with?
Staggering, Wide base gait
lower motor neurone- absent deep tendon reflexes
What do Fredreich'a Ataxia pt have on their EMG ?
Increased polyphasic potentials
What is Fredreich'a Ataxia tx for their cavus foot?
Surgery- coleman block test to intentify if hindfoot flexible
if positive and hindfoot corrects into valgus- dorsal 1st MT dorsiflexion osteotomy with Plantar fascia release, post tibialis tendon transfer, peroneus longus transfer, tendoachilles transfer
if coleman negative- for lateral calcaneal closed wedge osteotomy with soft tissue releases as above
but of too stiff - triple arthrodesis
What is Fredreich'a Ataxia tx for their scoliosis?
Fusion when curve is >50 degrees
What is the prognosis of someone with Friedreich's ataxia
Use of wheelchair by 15
Death by 40-50 of cardiomyopathy
What is Charcot Marie Tooth disease?
A hereditary SENSORY and MOTOR neuropathy which leads to DEMYELINATION of PERIPHERAL nervous system and muscle atrophy
What is the genetics of CMT?
DUPLICATION OF CHROMOSOME 17
What is the defect in, in CMT?
PERIPHERAL MYELIN PROTEIN 22
EXPRESSED ON SCHWANN CELLS
What does CMT present with?
PAINFUL LATERAL border of foot
What muscles does CMT effect in the foot?
Weak TIBIALIS ANTERIOR cf Normal/ weak PERONEUS LONGUS ->cavus
Weak PERONEUS BREVIS ( normal Post tibial-> varus deformity)
1st ray is plantarflexed - intial deformity
What appearancea does these muscle weakness cause in the foot and other joints in CMT?
HIP DYSPLASIA, Intrinsic muscle wasting
What types of CMT are there?
Type I- HYPERTROPHIC FORM
TYPE 2- NEURONAL
Which type of CMT leads to Pes caves?
TYPE 1- as slow nerve conduction velocity- pes cavus 2nd decade
What foot deformity happens with type 2 CMT?
reduced muscle action potential- AMPLITUDE-> FLACCID FOOT
What are the tx for CMT feet?
consx -Orthotics-long, semirigid, with lateral heel raise, depressed area for 1st ray
What are the surgical tx for CMT with flexible HindFoot?
coleman block test to intentify if hindfoot flexible
if positive and hindf corrects into valgus- dorsal 1st MT dorsiflexion osteotomy with Plantar fascia release, post tibialis tendon transfer, peroneus longus transfer, tendoachilles transfer