Charcot-Marie-Tooth Disease (CMT)
Management of CMT is currently supportive; however, such supportive therapy can dramatically improve a patient’s quality of life. Although there is no cure for CMT, there are treatments that can be used to effectively manage its symptoms. These treatments have allowed many people with the disease to lead active, productive lives. The main treatment for CMT involves working with an occupational or physical therapist. Optimal management is multidisciplinary, with care provided by neurologists, genetic counselors, nurses, physical and occupational therapists, physiatrists, and orthopedic surgeons.
Weakness of the respiratory muscles is rare in people with CMT, but when it occurs it can be life-threatening. If you regularly experience shortness of breath, you should have your breathing checked by a specialist, who might recommend occasional or night-time use of a device that delivers air under pressure into the lungs.
Two devices in the market can be used to support breathing, especially at night: BiPAP (bilevel or two-level positive airway pressure) and CPAP (continuous positive airway pressure). While CPAP generally delivers a single pressure, BiPAP delivers an inhale pressure and an exhale pressure. Patients with CMT should not use CPAP.
The use of certain prescription drugs or excess alcohol can lead to acquired neuropathy, and thus might exacerbate CMT. Case studies have shown that the chemotherapy drug vincristine can cause rapid deterioration in people with CMT.
When taking a prescription drug for the first time, it is a good idea to consult your doctor about its possible effects on CMT. Or, enter the specific name of the drug into an internet search engine, along with the words “prescribing information,” to receive a full explanation of what the drug does and what its side effects may be.
You are unlikely to see anything specific about CMT. However, if the medication’s side effect description mentions words like neuropathy, paresthesias, neuropathic pain or peripheral nerve damage, you may want to consult your physician about its use and possible alternatives. Lists of contraindicated (forbidden) drugs for people with CMT are often composed mostly of medications used to treat serious conditions, such as cancer. In these cases, there may be no alternative to taking the drug, with the awareness that CMT symptoms may worsen.
Late in the course of CMT, many people experience weakness in the hands and forearms and have difficulty with gripping and fine finger movements, such as turning doorknobs and buttoning and zippering clothes. Often, these problems can be overcome with occupational therapy, which helps people accomplish tasks of daily living with the use of assistive devices.
For example, an occupational therapist might recommend that you put special rubber grips on your home’s doors or buy clothes that fasten with Velcro or snaps. Your MDA Care Center can refer you to an occupational therapist.
Leg, ankle, and foot difficulties
Many people with CMT make their first visit to a neurologist after they notice frequent trips and falls, ankle sprains, or ankle fractures, all caused by foot drop. When these problems occur, some people find they can overcome them by wearing boots or high-top shoes to support the ankles. Others might require leg braces, such as an ankle-foot orthosis (AFO), a removable frame that fits snugly around the foot and ankle. Once made of clunky metal struts that required special shoes, AFOs are now made of lightweight custom-molded plastic or carbon fiber and can be worn underneath pants and tennis shoes.
Foot contractures can be delayed by using AFOs, which force the feet into a normal position and decrease stress on the ankles. Similarly, splints can be used to prevent unintended flexing of the toes. One of the most effective ways to keep muscles from tightening up and forming contractures is to begin a regular program of physical therapy, which usually consists of low-impact exercises and stretching.
If these methods fail and severe contractures occur, surgery can be used to loosen up tight muscles and tendons, or to correct bone deformities.
Your MDA Care Center can help get you started on an individualized physical therapy program.
For more on medical management of CMT, see Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected foot.
Many people with CMT will not need a wheelchair or motorized scooter, but an older person with advanced CMT or someone with a severe type might require one of these to get around, especially when traversing long distances. Like AFOs, wheelchairs are not what they used to be. There are wheelchairs that can be used on almost any terrain — from smooth shopping mall tile to uneven hiking trails — many of them powered by the flip of a switch.
Combined with the regular abrasions caused by foot deformities, a lack of pain sensitivity makes people with CMT at risk for developing ulcerations — wounds that have gone unnoticed and become severely infected. If you have CMT, and especially if you have any foot deformities, you should check your feet regularly for injuries.
Paradoxically, despite sensory loss, some people with CMT experience pain — a combination of painful muscle cramps and neuropathic pain. This pain is not caused by an external trigger but by defective signals in sensory axons. Both types of pain usually can be alleviated with medication.
In many people with CMT, sensory loss is associated with dry skin and hair loss in the affected area.
In rare cases, sensory loss can include gradual hearing impairment and sometimes deafness.
Watching out for these potential problems will enable you to seek appropriate treatment if necessary.