Roussy Levy syndrome

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. 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. 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 MPZClick Here; for laboratories offering testing for PMP22Click Here.

Last updated on 05-01-20

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.

Last updated on 05-01-20

How might Roussy Levy syndrome be treated?

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. The Charcot-Marie- Tooth Association (CMTA), an organization supporting CMT, maintains an updated list of medications that present varying risks for worsening CMT neuropathy. Click here to view their list.

Last updated on 05-01-20

Name: Charcot-Marie-Tooth Association PO Box 105
Glenolden, PA, 19036, United States
Phone: +1-610-499-9264 Toll Free: 1-800-606-2682 Fax : +1-610-499-9267 Email: info@cmtusa.org Url: https://www.cmtausa.org/
Name: Hereditary Neuropathy Foundation Inc. 401 Park Avenue, 10th Floor
New York, NY, 10016, United States
Phone: +1-212-722-8396 Toll Free: 1-855-435-7268 Fax : +1-917-591-2758 Email: info@hnf-cure.org Url: https://www.hnf-cure.org/
Name: Charcot-Marie-Tooth UK CMT UK 3 Groveley Road Christchurch, Dorset BH23 3HB
United Kingdom
Phone: 0300 323 6316 Email: enquiries@cmt.org.uk Url: https://www.cmt.org.uk/
Name: Charcot-Marie-Tooth Association Australia Inc. Building 22 Concord Hospital
Concord, NSW, 2139, Australia
Phone: (02) 9767 5105 Email: cmtaa2@cmt.org.au Url: https://www.cmt.org.au

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