NeurometPlus

Incidence

Autosomal dominant. It is a rare genetic neuromuscular disorder. In Roussy-Levy Syndrome, a gene mutation interferes with the normal production of myelin. The gene defect has been linked to the duplication of genetic material on chromosome 17 in some families with Roussy-Levy Syndrome.

Clinical Characteristics

Roussy-Levy 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-Levy 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. This disorder usually begins in infancy or childhood and manifests as a delay in starting to walk with clumsiness and frequent falls. This condition resembles Charcot-Marie-Tooth disease type in its dominant inheritance, foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, absent tendon reflexes, decreased excitability of muscles to galvanic and faradic stimulation, and some distal sensory loss. The syndrome differs in that it includes static tremor of the upper limbs and gait ataxia. Roussy and Levy stressed the absence of cerebellar signs, speech disturbances, Babinski sign, and nystagmus. Low conduction velocity of peripheral nerves is a striking feature. 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. In summary, 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.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

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: Nerve Conduction Study, Electromyography (EMG) and Nerve biopsy.