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Charcot-Marie-Tooth disease
Types of Hereditary motor and sensory
neuropathy(HMSN)
• 1-CMT(Hypertrophic demyelinating)
• 2-CMT(Axonal)
• 3-Dejerine-so...
Introduction
• One of most common inherited Neurological
disorders
• Compromises a group of disorders that affect
peripher...
Etiology
• Mutations in genes that produce proteins
involved in the structure and function of
peripheral nerve axon or the myelin s...
Types
• CMT – 1 AD Duplication of gene on
chromosome 17
• CMT – 2 Abnormalities in the axon of
peripheral nerve cell
• CMT...
Hereditary transfer
Clinical features
• Weakness in feet and lower leg muscles
• Deformities – frequent tripping and falling
• Loss of muscle ...
Other features
• Spine – thoracic scoliosis
• Diminished or absent DTR
• Diminished vibration and proprioception sense
• S...
DIAGNOSTIC WORKUP
• Patient’s history
• Family history
• Symptoms
• Neurological findings
• Radiological evidences
• Elect...
Treatment options
• Deformity correction
Plantar fascia release,
metatarsal osteotomy, calcaneal osteotomy ,
triple arthro...
Charcot marie-tooth disease
Charcot marie-tooth disease
Charcot marie-tooth disease
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Charcot marie-tooth disease

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charcot marie tooth disease

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Charcot marie-tooth disease

  1. 1. Charcot-Marie-Tooth disease
  2. 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. 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. 4. Etiology
  5. 5. • Mutations in genes that produce proteins involved in the structure and function of peripheral nerve axon or the myelin sheath
  6. 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. 7. Hereditary transfer
  8. 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)
  9. 9. 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
  10. 10. DIAGNOSTIC WORKUP • Patient’s history • Family history • Symptoms • Neurological findings • Radiological evidences • Electrodiagnostic tests
  11. 11. 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

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