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Signs and Symptoms

 * People who suffer from the Roussy-Levy Syndrome experience symptoms such as gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss.
 * Also characterized by slow nerve conduction and demylination of nerve fibers with onion bulb formations in nerve biopsy specimens.
 * Other symptoms include muscle weakness and loss in the extremities, delay in onset of ability to walk, loss of coordination and balance, foot drop, and foot-bone deformities
 * Symptoms of this type of CMT are usually first observed during infancy or early childhood, and slowly progress until about age 30, at which point progression may stop in some individuals, or symptoms may continue to slowly progress
 * Distinctive characteristics of this disease include tremors (rhythmic shaking) in the hands and arms and unsteadiness of gait.

Causes

 * Researchers have found that individuals with Roussy-Levy syndrome have a duplication of the PMP22 gene.
 * This gene mutation interferes with the normal production of myelin (outer covering of peripheral nerves that enhances the transmission of signals from the brain/spinal cord to muscles).
 * As a result, peripheral nerve cells are unable to activate target muscles or relay information from the limbs back to the brain.
 * This gene mutation is inherited in an autosomal dominant fashion, which means that only one copy of the abnormal gene is needed to cause the disease.

Nerve Conduction Study

 * Electrodes are placed on the skin over peripheral nerves.
 * The electrode produces a small, mild discomforting electrical shock.
 * This electrical impulse allows the doctor to measure how well the nerve conducts an electrical signal.

Electromyography (EMG)

 * A needle electrode is inserted through the skin to measure the electrical activity of the muscles.
 * This allows the doctor to assess how well the peripheral nerves in target muscle react to the electrical signal.

Nerve Biopsy

 * This involves removing a small piece of the nerve through an incision in the skin.
 * The nerve is examined under a microscope for signs of abnormal myelination.

Physical Therapy

 * Physical therapy and moderate activity are often recommended to maintain muscle strength and endurance.

Surgery

 * For some patients, surgery may be beneficial in correcting foot deformities.
 * Proper foot care including custom-made shoes and leg braces may minimize discomfort and increase function.
 * There also some medications that people with Roussy-Levy Syndrome should usually avoid as these medications may increase symptoms

Prognosis

 * Roussy-Levy is not a fatal disease.
 * Children with Roussy-Levy Syndrome are expected to mature and become adults with a normal life expectancy.
 * However, there are limitations and disabilities associated with the disorder.
 * In some cases supportive orthopedic equipment or wheelchair assistance may be helpful.