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