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Flashcards in Charcot Marie Tooth Disease Deck (27)
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1
Q

CMT 2 categories

A

Neuropathy is primary disorder

Neuropathy is part of a larger multi system disorder

2
Q

CMT

A

Initially involves peroneal nerve and eventually affects muscles in foot and lower leg
Later progresses on to forearm and hands

3
Q

CMT etiology

A

Autosomal dominant

Chromosomal deficits create duplication, deletion, or point mutations in code for proteins invovled in myelination

4
Q

Two main subtypes of heterogenous polyneuropathy CMT

A

CMT1 (most common autosomal dominant pattern)

CMT2

5
Q

CMT 1A

A

Primary 70% cases
Segmental demyelination of peroneal nerve

Ave NCV 15-20 m/s
(Normal ~40m/s)

6
Q

CMT1B

A

5-10% of type 1

NCV <20

7
Q

CMT1C

A

Dejerine stoats disease
Severe demyelination which can be detected by measuring NCV (266-42)
Autosminal dominant usually in infancy

8
Q

CMT1D

A

NCV 15-20m/s

9
Q

CMT1 foot structure

A

Pes cavus

10
Q

CMT patho

A

Mutations in proteins responsible for Schwann cell myelination —> extensive demyelination and hypertrophic Schwann cell (onion bulb)—> enlarged peripheral nerves

11
Q

CMT2

A

Less common,
20-40% CMT pts
Autosomal dominant w/ main affect on axon
NCV slightly below normal generally above 38

12
Q

CMT2 associated w/

A

Mutation in myelin protein zero
Genetic mutations that disrupt neurofimalment assembly—> affect axon transport
Loss of anterior horn cells in lumboscarcal seg of SC and cell bodies in dorsal root ganglion—> axonal degeneration

13
Q

CMT2 onset

A

B/n 2nd and 7th decade

Less involvement of small muscle of hands than CMT1

14
Q

CMT diagnostic

A
History
Hereditary 
Clinical presentations
EMG and NCV
Nerve biopsy
15
Q

Distinguish b/n CMT1 and CMT2

A

Clinically impossible

16
Q

CMT degrees of genetic dominance

A

Graded presentation

Linked (CMT2), men have signs of both demyelination and axonal degneration

17
Q

CMT1 onset and progression

A

Slow and childhood

18
Q

CMT s/s include

A

Distally symmetric muscle weakness, diminished DTR
Feet have pes cavus and hammer toes
High stepage gait secondary to DF and Evertor weakness

19
Q

As CMT progresses

A

Weakness and wasting of intrinsic muscles of hands and eventually forearms

20
Q

CMT1 presents

A

Demyelinates the peripheral nerve resulting in proprioceptive loss in feet and ankles and diminsihed cutaneous sensation

21
Q

CMT 2 presents

A

W/ minimal sensory loss

Sensory symptoms can also include tingling and burning in feet and legs

22
Q

CMT tx

A

No specific tx to alter course of disease
Tx is symptomatic to ensure fx maintained
Stretching and positioning is critical to maintain muscle length and joint mobility

23
Q

PT intervention

A

Focused on endurance and strength training

Home based PRE, cycling, strength endurance

24
Q

PT outcomes

A
Improved ADLS
Gait speed
Knee torque
Subjective pain and fatigue
VO2 max
25
Q

CMT most promising tx

A

Pharmacology targeting genetic mutations

Anti cancer drug should be avoided and can cause exacerbation

26
Q

CMT prognosis

A

Slowly progressive-manage impairments as they arise

27
Q

IF CMT not managed

A
Contracture
Progressive gait abnormalities
Falls and secondary injuries
Pressure sores
Functional decline