Friday, Nov 28, 2014 | 07:25 PM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Roussy-Levy Syndrome
Thursday, 07 October 2004
Thursday, 07 October 2004
Hereditary Motor Sensory Neuropathy, Hereditary Areflexic Dystasia

What

Roussy-Levy Syndrome is a rare inherited disorder of the neuromuscular system that is characterized by the development of multiple neurologic deficits during early childhood. This disorder primarily affects the peripheral nerves of the legs, feet, and hands. Peripheral nerves provide an essential relay for signals between the brain/spinal cord and the rest of the body. Disruption in peripheral nerve function produces the movement and sensory abnormalities associated with Roussy-Levy Syndrome.

Who

Roussy-Levy Syndrome is a very rare disorder. The frequency in the general population is unknown. The disorder can occur in children from all ethnic backgrounds and affects males and females equally.

Signs and Symptoms

Symptoms of Roussy-Levy Syndrome appear in early childhood and progress slowly throughout life. Children may have the following features: • Delay in starting to walk • Foot deformity (“Claw foot”-abnormally high arches of the feet with extended toes) • Tremors in the hands • Weakness and degeneration of lower leg muscles • Loss of sensation in the legs • Clumsiness • Gait ataxia (difficulty coordinating muscle activity during walking) • Frequent falls • Absence of reflexes in the legs (areflexia) • Scoliosis (abnormal curvature of the spine) Roussy-Levy Syndrome is considered a variant of a similar, more common disorder called Charcot-Marie-Tooth. Roussy-Levy Syndrome is distinguished by the appearance of hand tremors and gait ataxia.

Possible Causes

In Roussy-Levy Syndrome, a 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. The gene defect has been linked to the duplication of genetic material on chromosome 17 in some families with Roussy-Levy Syndrome. 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. In other words, if one parent is affected, there is a 50% chance of passing it on to the child.

Diagnosis

The diagnosis of Roussy-Levy Syndrome can be made based on recognition of the signs and symptoms. A neurologist can perform further testing to confirm the diagnosis. These tests include: 1. 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. 2. 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. 3. 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.

Treatment

There is no cure or specific treatment for Roussy-Levy Syndrome. Physical therapy and moderate activity are often recommended to maintain muscle strength and endurance. 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.

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.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Charcot-Marie-Tooth Association
As stated, Roussy-Levy is related to Charcot-Marie-Tooth. This site has a link that lists support groups in major cities all over the United States.

Web MD
This site has general information on Roussy-Levy Syndrome as well as links to support groups.

Muscular Dystrophy Association
This site offers information of Charcot-Marie-Tooth variants and links for parents to pose questions to physicians.

Diseases Database
Central website for links to other websites about the disease.

Google Search for Roussy-Levy Syndrome

References and Sources

1. Auer-Grumbach (1998), Roussy-Levy Syndrome, Journal of the Neurological Sciences, 154(1): 72-75. 2. Plante-Bordeneuve (1999) The Roussy-Levy Family: From the Original description to the gene, Ann Neurol, 46 (5):770-773 3. Online Mendelian Inheritance in Man (OMIM): Roussy-Levy-Syndrome www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=OMIM&dopt=Detailed&tmpl=dispomimTemplate&list_uids=180800