Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease. Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory ataxia), absent reflexes (areflexia) of the lower legs and hands, and abnormally high arches of the feet (pes cavus or "clawfoot"). Additional features of rhythmic shaking (static tremor) in the hands and an unsteady gait (gait ataxia) are specific to Roussy Levy syndrome.

This disorder is caused by issues with nerve conduction and sensory dysfunction. Roussy Levy syndrome may result from a duplication of the PMP22 gene (which is also associated with CMT1A) or a mutation in the myelin protein zero (MPZ) gene (mutations in this gene are also associated with CMT1B). Roussy Levy syndrome is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

Trichloroethylene is a chemical used in rubber manufacturing and in dry cleaning. No cases of Charcot-Marie-Tooth disease secondary to trichloroethylene exposure have been described. It is unclear if high-level trichloroethylene exposure can cause peripheral neuropathy in general. Short, low-level exposure may cause headache and nausea. Higher levels of exposure affect the trigeminal nerve.

Signs and symptoms of trichloroethylene neuropathy typically begin with numbness in the face and gums, followed by muscle weakness in the jaw, face, eye, and vocal cord with increasing exposure. Swallowing may become impaired. Symptoms similar to parkinsonism or an encephalopathy have been described. Once exposure is stopped, signs and symptoms resolve over time (1 to 2 years), however there have been cases of people with lasting facial numbness and swallowing difficulties.

Genetic testing for Roussy Levy syndrome (RLS) is available. RLS is one of the many different types of Charcot-Marie-Tooth disease (CMT). The genetics of the CMT disorders is complex. Once the different forms of CMT were classifed largely based upon their signs and symptoms. Now we know that alterations in the same gene can cause more than one type of CMT, and that a single type of CMT can be caused by alterations in more than one gene.

RLS is caused by alterations in the MPZ or the PMP22 genes. Alterations in these genes can also cause other forms of CMT (Charcot-Marie-Tooth type 1 and 2, Dejerine–Sottas neuropathy, hereditary neuropathy with liability to pressure palsies, and congenital hypomyelinating neuropathy). A variety of other gene alterations have been implicated in other types of CMT (for example, CMT1 can also be caused by MP22, LITAF, EGR2, and NEFL gene alterations).

We strongly recommend that you speak with your healthcare provider to discuss questions regarding your past testing result, and to learn if additional genetic testing would be informative for you. You may wish to speak with your provider regarding a referral to a genetics professional. Genetic professionals are a source of information for individuals and families regarding CMT testing.

There is a lack of published information regarding the treatment for this condition specifically; however, as Roussy Levy syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease resembling CMT type 1, the symptoms may be managed in a similar manner. While there is no cure for CMT1, treatment is specific to the signs and symptoms present in each individual and may include:

• Special shoes, including those with good ankle support and ankle/foot orthoses (AFOs) to correct foot drop and aid walking
• Orthopedic surgery to correct severe pes cavus (high arches)
• Forearm crutches or canes for walking stability
• Serial night casting to help increase ankle flexibility
• Acetaminophen or nonsteroidal anti-inflammatory agents for musculoskeletal pain
• Antidepressants or anti seizure medications such as carbamazepine or gabapentin for neuropathic pain
• Beta blockers or primidone for tremors
• Physical therapy and occupational therapy
• Exercise within each individual's capability

Additionally, there are certain medications that are potentially toxic to people with CMT as they may worsen CMT symptoms.