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Genetic and Rare Diseases Information Center (GARD)

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Roussy Levy syndrome


Other Names for this Disease

  • Charcot-Marie-Tooth Disease (Variant)
  • Charcot-Marie-Tooth-Roussy-Levy Disease
  • Hereditary areflexic dystasia
  • Hereditary Motor Sensory Neuropathy I
  • HMSN I
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Is there a DNA test for Roussy-Levy syndrome? I had a CMT DNA test several years ago that came up negative. Is this the same test for Roussy Levy syndrome? Also will trichloroethylene cause this type of peripheral neuropathy?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is genetic testing for Roussy Levy syndrome available? If so, is the test the same as the one for Charcot-Marie-Tooth disease?

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, Dejerineā€“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:  

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

Last updated: 4/26/2013

Can trichloroethylene exposure cause Roussy Levy syndrome or Charcot-Marie-Tooth disease?

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]
Last updated: 4/26/2013

References
  • Roussy-Levy hereditary areflexic dystasia. Online Mendelian Inheritance in Man. April 19, 2012; http://omim.org/entry/180800. Accessed 4/26/2013.
  • Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. European Journal of Human Genetics. 2009;17:703-710; http://www.nature.com/ejhg/journal/v17/n6/abs/ejhg200931a.html. Accessed 4/26/2013.
  • MPZ. Genetics Home Reference. January 2010; http://ghr.nlm.nih.gov/gene/MPZ. Accessed 4/26/2013.
  • Aminoff MJ, So YT. Effects of Toxins and Physical Agents on the Nervous System. In: Daroff. Bradley's Neurology in Clinical Practice, 6th ed. Philadelphia, PA: Saunders; 2012;
Other Names for this Disease
  • Charcot-Marie-Tooth Disease (Variant)
  • Charcot-Marie-Tooth-Roussy-Levy Disease
  • Hereditary areflexic dystasia
  • Hereditary Motor Sensory Neuropathy I
  • HMSN I
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.