It is very common for the first signs of Charcot-Marie-Tooth (CMT) to be symptoms and deformities that are seen in the feet and lower legs.

This is due to progressive weakness of the muscles in the lower extremity, causing muscle imbalance and related deformities. Doctors of Podiatric Medicine (DPM), also known as podiatrists, specialize in the diagnosis and surgical treatment of conditions of the feet and ankles. Approximately 15,000 podiatrists throughout the country are positioned at the front line for early detection of CMT.

Common symptoms:

Advanced imaging: (such as Magnetic Resonance Imaging or MRI) has yet to show promise concerning diagnosing CMT, yet it has prognostic value in central nervous system imaging to establish rehabilitation potential for these patients.

Some studies advocate for its use in demonstrating muscle atrophy secondary to demyelination with correlation with MMT.

High Arches:

Clinically, patient presentation is highly reliable in diagnosing one with CMT. In 1963, Brewerton and colleagues first demonstrated the association of individuals with symptomatic high arch feet and neurologic abnormality. Results showed that 2/3 of the study population presented with these conditions. Patient history and physical examination will reveal various findings such as the pathologic foot structure (high arches known as Pes Cavus / Cavovarus or Equinovarus deformity), presence of digital contractures (claw toe deformity), a tripod of the foot (suggestive of a rigid forefoot deformity), lateral ankle instability, and gait abnormality.  Research publication

Gait abnormality:

Will require a complete biomechanical exam evaluating the patient for pelvic elevation or pelvic tilt, followed by observation for the characteristic shuffling of the feet, high steppage (or Marionette Gait), and signs of excessive tilt of the heel. In addition to mobility problems and deformity, patients often report sensory deficits, primarily with proprioceptive/vibratory sensation and protective sensation, which can precipitate cutaneous compromise leading to ulceration.

Treatment

Conservative treatments for CMT primarily involve using accommodative bracing and supportive measures for palliative care of symptoms. A multidisciplinary approach is optimal, with the incorporation of Physical Therapy / Physical Medicine and Rehabilitation (PMR). Currently, no systemic treatments are available for CMT, yet ongoing research has shown some promise.

Conservative podiatric treatment for CMT patients:

In addition to mechanical interventions, physicians have been able to treat CMT patients with physical and occupational therapy.

Strength training may assist patients in decreasing the severity of contracture from muscle imbalance. Not only does this training help improve the function of weakened muscles, but it also helps to maximize the strength of uninvolved muscles. Studies show that even a small increase in strength in affected muscles can result in significant improvement in patients.

When the decision is made to treat a patient surgically with CMT, it is important to consider the apex of the deformity, which of the motor units remaining are functional, how flexible or rigid the established deformities are, and whether ligamentous laxity is present. The goals of surgery are that all fixed deformities must be corrected, including muscle/tendon imbalances, to prevent a recurrence.

Correcting these deformities before any further progression takes place will have a positive impact on the outcome of the surgical procedures. The long-term results of surgical correction show positive outcomes, including a slower progression of deformities and a more functional life with less discomfort.