Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. It comprises a group of disorders that affect the peripheral nerves, causing their gradual degeneration. There are several types of Charcot-Marie-Tooth disease that are caused by mutations in genes encoding proteins involved in the structure and function of the peripheral nerve axon or myelin sheath. Symptoms include weakness in the feet and lower legs, muscle wasting, and deformities of the feet. There is currently no cure for Charcot-Marie-Tooth disease, but treatment aims to correct deformities and muscle imbalances through procedures like tendon transfers and osteotomies.

1. Charcot-Marie-Tooth disease

2. Types of Hereditary motor and sensory
neuropathy(HMSN)
• 1-CMT(Hypertrophic demyelinating)
• 2-CMT(Axonal)
• 3-Dejerine-sotta’s disease(AR)
• 4-Refsum’s disease(AR)
• 5-Spastic paraplegia
• 6-With optic atrophy
• 7-With Retinitis pigmentosa

3. Introduction
• One of most common inherited Neurological
disorders
• Compromises a group of disorders that affect
peripheral nerves
• Gradual progression of disease
• Occurs in adolescent or early childhood

4. Etiology

5. • Mutations in genes that produce proteins
involved in the structure and function of
peripheral nerve axon or the myelin sheath

6. Types
• CMT – 1 AD Duplication of gene on
chromosome 17
• CMT – 2 Abnormalities in the axon of
peripheral nerve cell
• CMT – 3 Severe demyelinating neuropathy
• CMT – 4 AR Demyelinating motor and sensory
neuropathies
• CMT – X X linked dominant disease / point
mutation in connexin-32 gene on X
chromosome

7. Hereditary transfer

8. Clinical features
• Weakness in feet and lower leg muscles
• Deformities – frequent tripping and falling
• Loss of muscle bulk in lower leg – ‘inverted
champagne bottle appearance’ / stork leg
appearance(distal muscle wasting)
• Bony abnormalities – long standing cases –
PES CAVUS(high arch foot) , forefoot cavus
deformity(denervation of lumbricals)

11. Other features
• Spine – thoracic scoliosis
• Diminished or absent DTR
• Diminished vibration and proprioception sense
• Sensory gait ataxia
• Essential tremors
• SNHL
• Palpable peripheral nerves, diaphragmatic
weakness, vocal cord involvement

12. DIAGNOSTIC WORKUP
• Patient’s history
• Family history
• Symptoms
• Neurological findings
• Radiological evidences
• Electrodiagnostic tests

13. Treatment options
• Deformity correction
Plantar fascia release,
metatarsal osteotomy, calcaneal osteotomy ,
triple arthrodesis
• Rebalancing of deforming muscle forces
EDL transfer , posterior tibial
tendon transfer, Achillus tension lengthening,
peroneus longus to peroneus brevis tendon
transfer