Charcot Marie Tooth Disease Specialist

CHARCOT MARIE TOOTH DISEASE

FUNCTIONAL TREATMENTS

FUNCTIONAL TREATMENT of Charcot Marie Tooth Disease involves focus on the disease process, specifically the changes in the mechanics of how the foot and leg and providing treatments to improve function.

Charcot Marie Tooth Disease is a hereditary type of peripheral neuropathy which affects both motor and sensory function.

It is the changes in motor function which can make walking and balance difficult. While the disease itself is considered "incurable," the manifestations of the disease can be treated effectively. The disease may start in early childhood but often becomes noticeable to people in their early 30's. Patients may notice that their arches are gradually increasing in height, that ankles turn outward or sprain easier or that it is just harder to pick up the foot. This occurs because the disease process effects the peroneal nerve or peroneal nerve atrophy. The nerve controls the muscles that lift the foot (dorsiflexion) and the muscles that evert the foot (roll the foot to the inside).

Early biomechanical intervention

The ability to establish the mechanical deficits that are slowly occurring and treat those deficits can prevent deformity and help maintain the ability to walk and engage in activities. For example, one of the most common deforming forces in progression of the disease is tightening of the Achilles tendon. A tight or contracted Achilles tendon effectively makes it harder to lift the foot. Early attention to a shortening Achilles tendon may be performed by manual therapy, a type of physical therapy as well as stretching devices. If allowed to progress, then surgical lengthening may be required. The gradual turning outward of the foot may be addressed with special foot orthotics or ankle-foot orthotics.

Surgical treatment

The need for surgical treatment often is due to a failure to address the evolving mechanical issues early on. Surgical treatments may include Achilles tendon lengthening, tendon transfers and occasionally fusion of the subtalar joint as well as other procedures.

OVERVIEW

OVERVIEW OF CHARCOT MARIE TOOTH DISEASE

Charcot Marie Tooth Disease or CMT is a hereditary disease affecting nerves of the mainly the lowers extremities, the foot and and leg. It is a “neuropathy” meaning “disease of nerve.” It affects both sensory nerve fibers and motor nerve fibers but the motor affect can be more problematic.

The peroneal nerve is a branch of the sciatic nerve. It starts as the common peroneal nerve which branches into the deep peroneal nerve and superficial peroneal nerve. The peroneal nerve is involved in both motor and sensory function. Motor function involves giving innervation (nerve supply) to the muscles that lift the foot up and muscles that evert the foot, that is, roll the foot downward into the arch. Weakness of the peroneal nerve thus weakens or causes loss of the ability to lift the foot and weakness of the muscles that roll the foot inward. When a muscle group becomes weak, a muscle imbalance occurs.

CMT has its greatest affect on the peroneal nerve which is why is has been known as peroneal nerve atrophy. The muscles controlled by the peroneal nerve will loss strength not directly due to muscle damage but because they are being inadequately activated by nerve impulses. If the muscles that lift the foot become weak, the muscles that push the foot down (plantarflex) become relatively stronger. The resulting muscle imbalance results in tightness of the muscle in back of the calf (gastrocnemius and soleus) which exacerbates the weakness of the muscles in front of the leg responsible for lifting the foot. If the muscles in the front of the leg responsible for lifting the foot are too weak, the body will enlist the help of the muscles which lift the toes. That causes the toes to buckle and become hammertoes. If one sees this process in action then it is important to work on aggressively stretching and lengthening the muscles and tendons in back of the leg. This process is occurring gradually over decades and one should not wait to take action.

If the muscles that evert the foot (roll it in) become weak, then the muscles that invert the foot (roll it out) become relatively stronger and tighter. This leads to the arch getting progressively higher, causing one to walk on the outside of the foot which makes it easier to sprain ankles. This process also occurs gradually over decades so, again, early intervention with orthotics designed to roll the foot inward or evert the foot is important.