Fredreich's ataxia/ Charcot Marie tooth Flashcards Preview

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Flashcards in Fredreich's ataxia/ Charcot Marie tooth Deck (20):
1

What is Fredreich'a Ataxia?

A Spinocerebellar spinal disorder

2

What is the Fredreich'a Ataxia genetics?

AUTOSOMAL RECESSIVE
effects the FRATXIN GENE

3

What is Frataxin?

Iron binding protein
low levels -> increase iron levels in mitochondria -> damage to proteins?

4

What do Fredreich'a Ataxia patients present with?

Staggering, Wide base gait
Nysagmus
cadiomyopathy
PES CAVUS
SCIOLOSIS
lower motor neurone- absent deep tendon reflexes

5

What do Fredreich'a Ataxia pt have on their EMG ?

Increased polyphasic potentials

6

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

7

What is Fredreich'a Ataxia tx for their scoliosis?

Fusion when curve is >50 degrees
Bracing ineffective

8

What is the prognosis of someone with Friedreich's ataxia

Use of wheelchair by 15
Death by 40-50 of cardiomyopathy

9

What is Charcot Marie Tooth disease?

A hereditary SENSORY and MOTOR neuropathy which leads to DEMYELINATION of PERIPHERAL nervous system and muscle atrophy

10

What is the genetics of CMT?

Autosomal DOMINANT
DUPLICATION OF CHROMOSOME 17

11

What is the defect in, in CMT?

PERIPHERAL MYELIN PROTEIN 22
EXPRESSED ON SCHWANN CELLS

12

What does CMT present with?

PAINFUL LATERAL border of foot
ACKWARD GAIT
SENSORY DEFICIT

13

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

14

What appearancea does these muscle weakness cause in the foot and other joints in CMT?

PES CAVUS
HAMMER TOES
HIP DYSPLASIA, Intrinsic muscle wasting

15

What types of CMT are there?

Type I- HYPERTROPHIC FORM
TYPE 2- NEURONAL

16

Which type of CMT leads to Pes caves?

TYPE 1- as slow nerve conduction velocity- pes cavus 2nd decade

17

What foot deformity happens with type 2 CMT?

reduced muscle action potential- AMPLITUDE-> FLACCID FOOT

18

What are the tx for CMT feet?

consx -Orthotics-long, semirigid, with lateral heel raise, depressed area for 1st ray

19

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

20

What are the surgical tx for CMT with rigid HindFoot?

if coleman negative- for lateral calcaneal closed wedge osteotomy (valgus) with soft tissue releases as above
but of too stiff - triple arthrodesis