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

Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Monday, April 30, 2018 4:31 pm