Approach
Although there is no cure for Charcot-Marie-Tooth (CMT) disease and therapy is supportive, there are several treatment recommendations aimed at helping patients with the condition. Proper bracing and/or orthopaedic surgery of the feet can allow increased mobility and independence.
Physiotherapy and exercise
Low-impact exercises, such as cycling and swimming, as well as physiotherapy sessions, increase energy as well as reducing fatigue and pain.[22] The addition of a stretching programme, which may include yoga, enables a greater range of motion over time. Strength training of proximal/core muscles should be encouraged, starting at low resistance and gradually building up. Progressive resistance exercise of the ankle dorsiflexors is recommended to improve muscle strength and slow progression of muscle weakness.[14] Physiotherapy should be on a fixed schedule that the patient can ease into and modify as required. Exercise programmes should include rest days to encourage recovery.[14] Exercise should cease temporarily and exercise regimen should be modified, if there are any signs of exercise-induced muscle damage.[14]
Balance re-training, core strengthening, postural strengthening, and age-appropriate recreational activities may all be used to improve balance.[14]
Cramps are treated by stretching of involved muscle groups.[14]
Occupational therapy
Over time, patients lose intrinsic hand muscle strength, and can develop contractures of the fingers. Modifications in activities of daily living are thus often required. An occupational therapist can provide an assortment of tools - such as writing instruments, eating utensils, button hooks, and sock helpers - to enable better daily functioning. Adapted keyboard settings and voice-to-text software may be beneficial for children with impaired upper limb function.[14]
The occupational therapy input is tailored to the individual needs of the patient and modified as these needs change over time.
Bracing
Patients of all ages should be evaluated for appropriate bracing. Gait and mobility aids should be prescribed by a qualified health professional with experience in their provision.[14] Children with foot drop, who have recurrent trips and falls, or who have ankle instability may benefit from ankle-foot orthoses (AFOs). Children with foot pain may benefit from foot orthoses.[14] An orthotist aligns the hindfoot in the neutral position, and then posts the forefoot so it is parallel to the ground.[23] Once proper alignment has been achieved, patients often find their gait, and balance are improved, reducing the risk of falls. Posture can be improved and fatigue is reduced. Alignment of the feet also helps to reduce stress on the ankles, knees, hips, and back. With good bracing, orthopaedic surgery can be delayed, or the need for such surgery eliminated altogether. Bracing can improve the quality of life of patients with CMT and it is important that the right brace is fitted to each patient. Children with impaired mobility should wear well-fitting, supportive footwear.[23]
Patients with CMT require a stronger design of bracing than those with drop-foot from other causes. Carbon fibre ankle-foot orthoses (AFO) have been used instead of the traditional plastic AFO, as they are lighter and achieve increased strength and stability. AFO devices usually necessitate a shoe insert to create lateral stability, and provide a cushion that allows the foot to rest comfortably and be supported. It is important to consult with a knowledgeable orthotist. While prefabricated AFOs are cheaper, many patients require custom-fitted braces. Patients with CMT have reported that they appreciate the durability of their braces, but often find them uncomfortable, painful, or the cause of abrasions to their feet/legs.[24] Braces that are uncomfortable or that do not fit properly will not be worn, limiting the function of the patient. The other factor that keeps people from using braces is that they do not like their appearance, in particular teenagers. Dealing with this concern requires sensitive counselling with the family.
While night splinting is sometimes suggested for increasing range of motion at the ankle, two randomised studies did not find any statistically significant benefits.[25] These studies were small and used prefabricated splints. Future studies analysing the effectiveness of other interventions, such as serial removable night casting made from moulds of the patient's legs, may be warranted.
Orthopaedic surgery
The musculoskeletal features of CMT can be as problematic as the weakness. While properly fit AFOs are recommended as the first-line for preventing or delaying surgeries, the hammer toes and high arch to the foot can make it difficult to utilise bracing. The inward or outward turning of the foot (equinovalgus and equinovarus deformities) can keep the foot from being flat on the floor. Some patients will require orthopaedic surgery at some point to correct the foot deformities associated with CMT, or for secondary complications, such as a knee or hip replacement in osteoarthritis. It is important to consult with a surgeon who has experience with patients with CMT as their needs are not typically seen in other conditions.[26]
Common surgeries include tendon transfers, heel-cord prolongation, and/or hammer toe straightening.[27] These surgeries have better long-term effects than other procedures, including triple arthrodesis (ankle fusion), as the latter has been shown to break down over time and cause pain subsequent to arthritis formation at the ankle joint, though this procedure may be appropriate with accompanying soft tissue and tendon transfers in an older person who has painful arthritic joints.[26]
Surgery also has risks, including, but not limited to: pain, infection, nerve injury, possibilities of future corrective surgeries, and possible adverse reactions to anaesthesia (not elevated over general population risks).[28][29]
The progressive nature of CMT should be remembered. Surgery is not always corrective, and, even if it is, the clinical feature in question may regress in the future.[30] Even after surgery, most patients will still need to wear an AFO for ambulation.
Treatment of underlying concomitant conditions affecting ambulation
Diabetes mellitus (DM) has been shown to exacerbate CMT.[31] Being in good glycaemic control leads to better outcomes for people with CMT than those with poor glycaemic control.[31]
Spine issues, including spinal stenosis or lumbar radiculopathy, can impair ambulation for all people. For people with CMT who have seemingly superimposed secondary spinal deficits, appropriate physiotherapy and surgical referral can be made. Thought should be given to the intervention and how it could impact the underlying neuropathy.
Neurotoxical medicines should be undertaken with a critical eye on the risk: benefit ratio. The chemotherapeutic agent vincristine can occasionally induce atypical and more severe neuropathy symptoms than would occur without the drug.[32]
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