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CHARCOT-MARIE-TOOTH
CMT - Coggle Diagram
CHARCOT-MARIE-TOOTH
CMT
PATHOGENESIS
commonest - autosomal dominant inheritance
- also autosomal recessive & X-linked
- 1 in 2,500
TYPES
CMT1A
- commonest
- gene duplication - PMP 22
- abnormal myelin
- unstable & breaks down
CMT 1A
- onset by 10 years old
- muscle weakness & wasting
- starts intrinsic foot muscles
- distal legs = "inverted champagne bottles"
- hands & forearms
- finger curling
Sensory loss
- same pattern as muscles
- distal legs, arms
- loss of vibration & touch
Proprioreceptive
- sensory ataxia
- steppage gait
Other
- generalised tendon areflexia
- foot drop & deformity
- pes cavus 25%
- flexed toes & flat feet
- difficulty walking & running
- tripping
- pressure palsies
- hand tremors
- muscle cramps
- acrocyanosis
- large nerves palpable
Spinal deformities
- thoracic scoliosis 37-50%
CMT2
AKA -
Hereditary Motor &
Sensory Neuropathy type 2 = HMSN-II
- axonal disorder - die
- results in peripheral neuropathy
Primary peripheral axonal neuropathy
- onset 2 decade
- may be later
- pattern similar to CMT1
CMT 3
AKA -
Dejerine-Sottas neuropahty
- marked segmental
demyelination
- infantile onset
- usually by 2 years
- hypotonia = floppy baby syndrome
- delayed motor skills
- much more severe > CMT1
- reduced life expectancy
CMTX (x-linked dominant)
&
CMT 4 (usually autosomal recessive)
- demyelinating neuropathies
CMTX
- usually mild in females
- in males moderate -> severe
- some forms only male affected
CMTX1
- sub-clinical CNS involvement
- mild signs
- MRI abnormalities
- EEG abnormalities
INVESTIGATIONS
- Genetic studies
- Electrophysiology
- Molecular testing
MANAGEMENT
- no definitive treatment
- physical therapy
- surgery - corrective
- orthotics
REHABILITATION
- Exercise - mild/moderate
- Weight control - avoid obesity
- Stretching - Achilles
- Posture & balance
- Orthotics & braces
foot position
facilitate walking
upper limb bracing
PAIN
- skeletal deformities
- postural abnormalities
- muscle fatigue
- nerve damage
PHARMACOLOGY
- analgesics
- neuropathic & non -neuropathic pain
- avoid neurotoxic drugs
GENETIC COUNSELLING
- understand implications
- inheritance patterns
- informed decisions
- reproductive choices
COMPLICATIONS
- skin breakdowns & burns
- foot ulcers & cellulitis
- ankle sprains
- laryngeal dysfunction with aspiration pneumonia
- normal life expectancy CMT1A
- substantial impairment in later life CMTX1
- reduced life expectancy CMT3