Roussy Lévy syndrome

Roussy–Lévy syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that usually presents in early childhood. The disorder is characterized by incoordination, poor movement control (sensory ataxia), and absence of reflexes (areflexia) in the lower limbs and possibly the arms; weakness and degeneration (atrophy) of the muscles of the lower limbs; abnormally high arches of the feet with increased toe extension (pes cavus or “claw foot”); and tremor of the hands. Many affected individuals also have abnormal forward and backward curvature of the spine (kyphoscoliosis). In individuals with Roussy–Lévy syndrome, there is a failure of communication of certain nerve signals with the muscles of the lower limbs (denervation). Roussy–Lévy syndrome is inherited as an autosomal dominant genetic trait.

Diagnosis:
Roussy–Lévy syndrome is inherited in an autosomal dominant pattern. Human traits, including classical genetic diseases, result from the interaction of two genes, one inherited from the father and one from the mother. In dominant disorders, one copy of the disease gene (inherited from either the mother or father) is expressed and “dominates” the normal gene, resulting in the disease. The risk of transmission from an affected parent to offspring is 50% for each pregnancy, regardless of the child’s sex.

Scientific evidence published in 1998 suggests that Roussy–Lévy syndrome appears to be a form of Charcot–Marie–Tooth disease, as it is caused by a partial duplication of the same gene responsible for CMT (17p11.2). Roussy–Lévy is a rare disorder affecting males and females equally. Onset is in early childhood.

Therapy:
Treatment of Roussy–Lévy syndrome may include the use of orthoses for foot deformities or orthopedic foot surgery to correct muscle imbalance. Genetic counseling may be beneficial for patients and their families. Further treatment is symptomatic and supportive.

• Weakness and atrophy of the legs (with some loss of sensation)
• Difficulty walking
• Absence of reflexes
• Foot deformities
• Early onset (in childhood) with a progressive course
• Sometimes mild tremor in the hands
• Abnormal forward and backward curvature of the spine