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Charcot Marie Tooth: (hereditary motor sensory neuropathy)


- Discussion:
- type I, type II, and type III are most common;
- type IV:
- is also referred to as Refsum disease;
- associated w/ excess phytanic acid;
- type V:
- inherited spastic paraplegia with distal weakness in the limbs;
- usually presents in the second decade of life or later;
- patients develop awkward gait and equinus foot deformities;
- type VI involves optic atrophy in association with peroneal muscular atrophy;
- type VII is characterized by retinitis pigmentosa associated with distal muscle weakness in the limbs and atrophy;
- ref: Pathophysiology of Charcot-Marie-Tooth disease.


- Clinical Features:
- patients may present w/ muscle cramps, difficulty with gait or w/ deformities of the feet;
- upper extremity in CMT:
- hip joint: look for proximal muscle weakness, and hip dysplasia;
- pes cavus in CMT:
- loss of proprioception and vibratory sensation is common in the lower extremities;
- young patients should be checked for ataxia, as this might indicate Friedreich's Ataxia (rather than CMT);
- ref: The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis.


- Treatment:
- spine:
- scoliosis is seen in approximately 10 per cent of patients who have hereditary motor sensory neuropathy;
- correction without long-term recurrence can be achieved with bracing, and, for progressive curves, posterior spinal arthrodesis is
warranted and effective;
- ref: Spinal deformities in patients with Charcot-Marie-tooth disease. A review of 12 patients.

- foot and ankle:
- forefoot and toe deformities:
- pes cavus:
- achilles tendon lengthening:
- lengthening of the tendo achillis is not needed in a cavovarus foot when the calcaneus is positioned normally with the
equinus deformity located distal to the talonavicular and calcaneocuboid joints;
- references:
- Assessment and management of pes cavus in Charcot-Marie-Tooth Disease.
- Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease.
- Surgical Treatment of Cavus Foot in Charcot-Marie-Tooth Disease: A Review of Twenty-four Cases
- Posterior Tibial Tendon Transfer: Results of Fixation to the Dorsiflexors Proximal to the Ankle Joint

- misc:
- pts with Charcot Marie Tooth may have involvement of the Phrenic nerve, and therefore care must be taken with general anesthesia