Roussy Levy syndrome

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.^[1] 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).^[2] 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).^[3]   

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. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:  

• GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
• The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
• The American College of Medical Genetics has a searchable database of US genetics clinics.
• The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
• The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.

To view a list of laboratories that offer genetic testing of MPZ Click Here; for laboratories offering testing for PMP22 Click Here. 

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.^[4]