Rapid review points of HSMN-1/ Charcot Marrie Tooth disease (CMTD)
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HSMN=2D
- 2= Bilateral+Symmetrical
- D= Dominant +Distal + Demyelination (±nerve palpable±Sensory)
- (in contrast, Myotonia Dystrophica, MD= M+D, M=
Myotonica, D= Dominant +Distal + Distrophy)
- Dominant=
Autosomal dominant+PMP22 gene(chromosome 17) mutation + ( less common MPZ
gene, chromosome 1)
- Distal= Distal wasting+Distal weakness
- Distal wasting= Lower limb= peroneal muscular atrophy=inverted
champagne bottle, Upper limb=Wasting of small mucles of hand+Claw hand ( D/D = ulnar nerve palsy)
- Distal weakness= Lower limb= Pes Cavus+Foot drop(Foot
drop=high steppage gait); upper limb=
- Demyelination: Type 1& 3 = Demyelination↠ Nerve Conduction Study = Delayed (reduced Nerve
Conduction Velocity), Type 2 = Axonal DEgeneration , Nerve Conduction
Velocity = relatively normal
- Nerve palpable : Upper limb= ulnar nerve, lower limb=
lateral popliteal nerve
- Sensory : Sensory loss may present, but
pain+temperature usually normal (as they are carried by unmyelinated
fibres, so no effect of demyelination here)
- Investigation: NCS+Nerve biosy ( onion bulb
appearance= schwann cell proliferation, due to repeatation of
demyelination followed by remyelination process)
- Management= 2= 2E+2A+2O
- Multidisciplinary approach=
Nerologist+Physiotherapist+occupational therapist+Orthopedic surgeon
- Education+Exercise+
Aid (walking) + Analgesic+ Ankle support + Occupational therapy+
Orthopaedic surgery
HNPP= Herediatry
neuropathy of pressure palsy
- Same gene mutation like HSMN, PMP 22 ,chromosome 17
- involvement of ulnar nerve , common peroneal nerve :
pressure sympotoms prolong
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