Fredreich's ataxia/ Charcot Marie tooth

Question 1

What is Fredreich’a Ataxia?

Answer 1

A Spinocerebellar spinal disorder

Question 2

What is the Fredreich’a Ataxia genetics?

Answer 2

AUTOSOMAL RECESSIVE

effects the FRATXIN GENE

Question 3

What is Frataxin?

Answer 3

Iron binding protein

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

Question 4

What do Fredreich’a Ataxia patients present with?

Answer 4

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

Question 5

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

Answer 5

Increased polyphasic potentials

Question 6

What is Fredreich’a Ataxia tx for their cavus foot?

Answer 6

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

Question 7

What is Fredreich’a Ataxia tx for their scoliosis?

Answer 7

Fusion when curve is >50 degrees

Bracing ineffective

Question 8

What is the prognosis of someone with Friedreich’s ataxia

Answer 8

Use of wheelchair by 15

Death by 40-50 of cardiomyopathy

Question 9

What is Charcot Marie Tooth disease?

Answer 9

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

Question 10

What is the genetics of CMT?

Answer 10

Autosomal DOMINANT

DUPLICATION OF CHROMOSOME 17

Question 11

What is the defect in, in CMT?

Answer 11

PERIPHERAL MYELIN PROTEIN 22

EXPRESSED ON SCHWANN CELLS

Question 12

What does CMT present with?

Answer 12

PAINFUL LATERAL border of foot
ACKWARD GAIT
SENSORY DEFICIT

Question 13

What muscles does CMT effect in the foot?

Answer 13

Weak TIBIALIS ANTERIOR cf Normal/ weak PERONEUS LONGUS ->cavus
Weak PERONEUS BREVIS ( normal Post tibial-> varus deformity)
1st ray is plantarflexed - intial deformity

Question 14

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

Answer 14

PES CAVUS
HAMMER TOES
HIP DYSPLASIA, Intrinsic muscle wasting

Question 15

What types of CMT are there?

Answer 15

Type I- HYPERTROPHIC FORM

TYPE 2- NEURONAL

Question 16

Which type of CMT leads to Pes caves?

Answer 16

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

Question 17

What foot deformity happens with type 2 CMT?

Answer 17

reduced muscle action potential- AMPLITUDE-> FLACCID FOOT

Question 18

What are the tx for CMT feet?

Answer 18

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

Question 19

What are the surgical tx for CMT with flexible HindFoot?

Answer 19

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

Question 20

What are the surgical tx for CMT with rigid HindFoot?

Answer 20

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