- 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;
- 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);
- 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;
-
foot:
-
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;
-
misc:
- pts with Charcot Marie Tooth may have involvement of the Phrenic nerve, and therefore care must be taken with general anesthesia;
The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich's ataxia, and arthrogyposis. A review.
JBJS. Vol 75. 1993. p 1699-1714.
Spinal deformities in patients with Charcot-Marie-tooth disease. A review of 12 patients.
Pathophysiology of Charcot-Marie-Tooth disease.
Pathophysiology of Charcot-Marie-Tooth disease.
Assessment and management of pes cavus in Charcot Marie Tooth Disease. IJ Alexander, KA Johnson. CORR. Vol 246. 1989. p 273-281.
Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease.
Posterior Tibial Tendon Transfer: Results of Fixation to the Dorsiflexors Proximal to the Ankle Joint
