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Roussy-Lévy Syndrome

Last updated Dec. 17, 2018

Approved by: Maulik P. Purohit MD, MPH

Roussy-Lévy Syndrome is a rare, congenital disorder that is caused by the inheritance of mutated MPZ and PMP22 genes.


What are the other Names for this Condition? (Also known as/Synonyms)

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

What is Roussy-Lévy Syndrome? (Definition/Background Information)

  • Roussy-Lévy Syndrome is a rare, congenital disorder that is caused by the inheritance of mutated MPZ and PMP22 genes. In this neuromuscular disorder, the nerve signals to the lower limbs do not function properly, which results in the characteristic signs and symptoms of the disorder
  • Roussy-Lévy Syndrome shows an early onset in children and it has a slow rate of progression. A positive family history of Roussy-Lévy Syndrome increases the risk for the disorder. It is considered to be a variant of Charcot-Marie-Tooth Disease
  • A healthcare provider can diagnose Roussy-Lévy Syndrome by performing a physical exam to look for signs and symptoms, such as sensory ataxia and absence of reflexes (areflexia) in the leg muscles
  • Upon diagnosis, treatment options such as foot braces or orthopedic surgery can be used to treat deformities that may be causing muscle imbalances
  • The prognosis of Roussy-Lévy Syndrome depends on the severity of the disorder. Individuals with mild signs and symptoms have better prognosis than those with severe condition. However, the condition does not lead to a shortened lifespan

Who gets Roussy-Lévy Syndrome? (Age and Sex Distribution)

  • Roussy-Lévy Syndrome is a congenital condition and the signs and symptoms begin to present itself in early childhood
  • Males and females of different racial and ethnic backgrounds are affected

What are the Risk Factors for Roussy-Lévy Syndrome? (Predisposing Factors)

  • A family history of Roussy-Lévy Syndrome may increase one’s risk for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Roussy-Lévy Syndrome? (Etiology)

  • Roussy-Lévy Syndrome is caused by the inheritance of mutated genes, specifically the MPZ and PMP22 genes
  • It is inherited in an autosomal dominant manner. This means that only one mutated gene is needed from a parent to cause the condition

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Roussy-Lévy Syndrome?

The signs and symptoms of Roussy-Lévy Syndrome progress slowly and can vary between individuals. In some individuals, the condition is known to stabilize after a period of time. The signs and symptoms may include:

  • Roussy-Lévy Syndrome affects both the motor function and sensory function of the nerves; the peripheral nerves are affected
  • The lower limbs are affected initially; the hands and arms may be involved later
  • Sensory ataxia: Poor judgment of movements and loss of coordination; balancing difficulties
  • Weakness along with a loss of sensation in the leg muscles; muscular atrophy of leg muscles
  • Trouble walking due to foot deformities known as pes cavus
  • Slight hand tremors called static tremors
  • Areflexia: Decreased reflexes or a lack of reflexes of the arms and legs
  • Abnormal spine curvature (kyphoscoliosis)
  • Altered sensation to touch may be noted

Rarely, the progression of the signs and symptoms of Roussy-Lévy Syndrome may be slightly faster than normally expected.

How is Roussy-Lévy Syndrome Diagnosed?

A healthcare professional can diagnose Roussy-Lévy Syndrome through:

  • Analysis of previous medical and family history and a complete physical exam
  • Nerve conduction studies
  • Electroencephalographic (EEG) studies of brain
  • Genetic testing for the mutated genes, which usually provides a definitive diagnosis
  • Nerve biopsy may show abnormal findings

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Roussy-Lévy Syndrome?

Complications of Roussy-Lévy Syndrome may include:

  • Constant difficulties with daily activities due to walking issues and weakness in the legs
  • In a child, a delay in acquiring walking skills can cause foot drop; foot drop can lead to inadvertent hurting of feet
  • Severely reduced mobility
  • Participation in sports and athletic activities may become limited

How is Roussy-Lévy Syndrome Treated?

There is no cure for Roussy-Lévy Syndrome and symptomatic measures are adopted to manage the signs and symptoms. The treatment is determined by a healthcare professional, who may employ the following measures to address the symptoms:

  • Foot braces or orthopedic surgery on the feet to help with  deformities and correct imbalances in the muscles
  • Physical rehabilitation
  • Other symptomatic treatment measures such as occupational therapy

How can Roussy-Lévy Syndrome be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Roussy-Lévy Syndrome, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Roussy-Lévy Syndrome
  • It has been studied that avoiding caffeine and alcohol can help control tremors to an extent

What is the Prognosis of Roussy-Lévy Syndrome? (Outcomes/Resolutions)

  • The prognosis for Roussy-Lévy Syndrome depends on the severity of the signs and symptoms of the disorder
  • Individuals with mild forms of Roussy-Lévy Syndrome have a better prognosis than those with severe forms of the disorder
  • However, a majority of individuals with the disorder have normal life expectancy

Additional and Relevant Useful Information for Roussy-Lévy Syndrome:

  • Charcot Marie Tooth disease is a group of hereditary disorders that target the peripheral nerves; the nerves that communicate signals from the brain and spinal cord to the muscles and sensory organs in the arms and legs

The following link will help you understand Charcot Marie Tooth disease:

http://www.dovemed.com/diseases-conditions/charcot-marie-tooth-disease/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 9, 2016
Last updated: Dec. 17, 2018