Roussy Lévy Syndrome

Resumen

Roussy-Lévy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with increased extension of the toes (pes cavus or «clawfoot»); and tremors of the hands. Many affected individuals also have an abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis). In individuals with Roussy-Lévy Syndrome, there is a failed communication of certain nerve signals to muscles of the lower legs (denervation). Roussy-Levy Syndrome is inherited as an autosomal dominant genetic trait.

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Sinónimos

• Charcot-Marie-Tooth Disease (Variant)
• Charcot-Marie-Tooth-Roussy-Levy Disease
• Hereditary Areflexic Dystasia
• Hereditary Motor Sensory Neuropathy
• Hereditary Motor Sensory Neuropathy I
• HMSN I

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Signos y Síntomas

Symptoms of Roussy-Lévy Syndrome are similar to other hereditary motor sensory neuropathies in that there is weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Lévy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during childhood and its slowly progressive course. Roussy-Lévy also has as one of its characteristics a slight tremor in the hands.

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Causas y Herencia

Roussy-Lévy is inherited through autosomal dominant genetic transmission. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed «dominating» the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Scientific evidence published in 1998 indicated that Rousy Lévy Syndrome appears to be a form of Charcot Marie Tooth Disease because it is caused by a partial duplication of the same gene that causes CMT (17p11.2). (For more information, choose «CMT» as your search term in the Rare Disease Database.)

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Frecuencia

Roussy-Lévy is a rare disorder that affects both sexes in equal numbers. Onset is during early childhood.

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Enfermedades con síntomas similares

Symptoms of the following disorders can be similar to those of Roussy-Lévy Syndrome. Comparisons may be useful for a differential diagnosis:

Charcot-Marie-Tooth Disease is an hereditary neurological disorder. It is characterized by weakness and atrophy of the legs and disappearance of the fatty shield surrounding the nerves. The most incapacitating initial symptom is «foot drop». The disorder has a gradual progression usually beginning in middle childhood through age 30. Symptoms of CMT may arrest spontaneously or it may continue to progress slowly. Patients may remain active for years. (For more information on this disorder, choose «Charcot-Marie-Tooth» as your search term in the Rare Disease Database.)

Dejerine-Sottas Disease is a hereditary neurological disorder which progressively affects mobility. It tends to begin suddenly, usually between ten and thirty years of age. Tingling, prickling or burning sensations are usually the initial symptoms. Weakness is commonly first noticed in the muscles of the back of the legs. This then spreads to the front leg muscles. Pain, loss of heat sensitivity, absence of reflexes and atrophy of leg muscles are further symptoms of Dejerine-Sottas Disease. (For more information on this disorder, choose «Dejerine-Sottas» as your search term in the Rare Disease Database.)

Hereditary Sensory Radicular Neuropathy is a dominant hereditary disorder characterized initially by pain and loss of heat sensation in the feet and lower legs. Later the patient may have attacks of sharp pains throughout the body and weakness in the legs along with ulcers of the feet. (For more information on this disorder, choose «Hereditary Sensory Radicular Neuropathy» as your search term in the Rare Disease Database.)

Refsum Syndrome is a rare recessive hereditary disorder of fat metabolism which is characterized by peripheral neuropathy, impaired muscle coordination (ataxia), eye problems, deafness, and bone and skin changes. It is associated with marked accumulation of phytanic acid in the blood plasma and tissues. The disorder may be due to the absence of phytanic acid hydroxylase, an enzyme needed for the metabolism of phytanic acid. (For more information on this disorder, choose «Refsum Syndrome» as your search term in the Rare Disease Database.)

Friedreich’s Ataxia is a hereditary syndrome characterized by slow degenerative changes of the spinal cord and the brain. Dysfunction of the central nervous system affects coordination of the muscles in the limbs. Speech can be affected and numbness or weakness of the arms and legs develops. This syndrome is the most common of the many different forms of hereditary ataxia and usually begins in childhood or during teenage years. It produces an unsteady gait, staggering, and lurching or trembling when standing or walking. In time tremors may occur in the hands or arms. (For more information on this disorder, choose «Friedreich’s Ataxia» as your search term in the Rare Disease Database.)

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Tratamiento

Treatment of Roussy-Lévy Syndrome may include use of braces for the foot deformity or orthopedic surgery on the feet to correct the imbalance of the affected muscles. Genetic counseling may be of benefit to patients and their families. Other treatment is symptomatic and supportive.

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Investigaciones

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: [email protected]

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

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Referencias

TEXTBOOKS

Principles of Neurology 6th Ed.: Raymond D. Adams, Maurice Victor, and Allan H. Ropper, Editors; McGraw-Hill, Inc.; 1997:1345-46.

JOURNAL ARTICLES

Auer-Grumbach M, et al. Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome associated with a duplication on chromosome 17P11.2. J. Neurol Sci.1998;154(1):72-75.

Aksu F, et al. Progressive ataxia and distal muscular atrophy-differential diagnostic considerations on Roussy-Lévy syndrome. Klin Padiatr.1986;198(2):114-18.

Imhauser G, Orthop Z. Treatment of severe concave clubfoot in neural muscular atrophy. 1984;122(6):827-34.

Lapresle J. Roussy-Lévy hereditary areflexic dysstasia, it’s historical relation to Friedreich’s disease, Charcot-Marie-Tooth atrophy and Dejerine-Sottas hypertrophic neuritis; the present status of the original family; the nosologic role of this entity. Rev Neurol. 1982;138(12):967-78.

Lapresal J. Morphological studies of peripheral nerves for a better understanding of Charcot-Marie-Tooth atrophy and Roussy-Lévy hereditary areflexic dysstasia. Ann Med Interne.1980;131:397-400.

FROM THE INTERNET

Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 6/12/98. Entry Number 180800.

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