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Charcot Marie Tooth Disease (HMSN)

Scenarios: Difficulty walking, leg weakness.

Examination of Charcot Marie Tooth:

 Inspection: Pes cavus (place your palm across the bottom of the foot to show that you are looking
for this), hammer toes, callosities, muscle wasting (distal more than proximal giving inverted
champagne bottle appearance, hands can also be affected with resultant clawed appearance),
postural tremor, high steppage gait, scoliosis. Occasionally fasiculations.
 Palpation: Thickened nerves.
 Tone: Reduced.
 Power: Reduced with distal muscles affected more than proximal.
 Reflexes: Reduced, planters down-going or mute.
 Co-ordination: Normal though patient may have some sensory ataxia.
 Sensation: Typically milder than the motor involvement and involve reductions in vibration, soft
touch, sharp touch, and propriception. Positive Romberg’s
 Two rare forms have other associations such as pyramidal involvement or optic atrophy.

Differential diagnosis: The main differentials would be diabetes, alcohol and a vasculitis with
mononeuritis multiplex in a young individual.

 Hereditary: Other CMT subtypes, mitochrondrial disorders, hereditary neuropathy with pressure

palsies.
 Acquired neuropathies: Immune (Chronic inflammatory demyelinating polyneuropathy,
mutlifocal motor neuropathy with conduction blocks), metabolic (diabetes), toxic (alcohol,
medications), nutritional (B12 defiency), paraneoplastic, amyloidosis.
 If predominant motor consider motor neurone disease.

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Investigations:

 Bedside tests: Basic observations including heart rate and lying and standing BP (autonomic
involvement from a neuropathy), finger prick glucose (to r/o diabetes), urine dipstick (glycosuria
of diabetes, proteinuria of amyloidosis), fundoscopy (optic atrophy of type 6).
 Bloods: To rule out alternatives.
  Special tests: Genetic testing (can now diagnose most forms of the disease this way but lots of
mutations so need to be guided by the apparent inheritance pattern and findings on
NCS/EMG), nerve conduction studies (axonal: preserved or only mildly slow conduction
velocities of low amplitude or demyelinating: slowed conduction velocities), nerve
biopsy (axonal: axonal degeneration and regeneration or demyelinating: demyelination with
demyelination looking like onion bulb abnormalities).

Management:

 Non-pharmacological: Physiotherapy, orthotics (shoe modifications, braces), referral for genetic

counselling and support groups.
 Medical: Analgesia.
 Surgery: Orthopaedic procedures (soft tissue surgery like plantar fasciotomies and tendon
transfers, osteotomies, joint fusions).

Questions:

1. What is the inheritance pattern in Charcot Marie Tooth Disease? Variable – all mendelian
inheritance forms are seen including autosomal dominant and recessive, and X-linked are
recognised.
2. Which form of CMT do you think the patient has? Clinically it is difficult to asses and will be
based on a combination of physical findings, inheritance pattern, findings on nerve conduction
studies and genetic testing. Clues include:
 Thickened peripheral nerves: Type 1 and 3.
 Weakness worse in arms than legs: Type 2D.
 Pyramidal tract signs: Type 5.
 Optic atrophy: Type 6 (also consider Friedreich’s Ataxia, especially if cerebellar signs
present).