Please enable JavaScript.
Coggle requires JavaScript to display documents.
Charcot-Marie-Tooth Syndrome (Viva (Ix (Nerve conduction studies (HMSN1:…
Charcot-Marie-Tooth Syndrome
Also known as
= Peroneal Muscular Atrophy
= Hereditary Motor and Sensory Neuropathy
Examination
Inspection
Pes cavus
Symmetrical distal muscle wasting
claw hand
champagne bottle leg
Thickened nerves: esp. common peroneal around fibula
Motor
High-stepping gait: foot drop
Weak foot and toe dorsiflexion
Absent ankle jerks
Sensory
Variable loss of sensation in a stocking distribution
Viva
Mx: Supportive
MDT: GP, neurologist, specialist nurses, physio, OT
Foot care and careful shoe choice
Orthoses: e.g. ankle braces
Hx
Family Hx
Pathophysiology
Group of inherited motor and sensory neuropathies
HMSN1
Commonest form
Demyelinating
AD mutation in the peripheral myelin protein 22 gene
HMSN2
Second commonest form
Axonal degeneration
Autosomal dominant
Ix
Nerve conduction studies
HMSN1: demyelination → ↓ conduction velocity
HMSN2: axonal degeneration → ↓ amplitude
Genetic testing
HMSN1: Peripheral myelin protein 22 (PMP22) gene