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Disease Profile
Roussy Levy syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Infancy
ICD-10
G60.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; Hereditary areflexic dystasia;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Roussy Levy
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
Decreased motor nerve conduction velocity | 0003431 | |
Decreased number of peripheral myelinated nerve fibers | 0003380 | |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hypertrophic nerve changes | 0003382 | |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the |
Immunological abnormality
|
0002715 |
0000006 | ||
Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
Distal sensory impairment |
Decreased sensation in extremities
|
0002936 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Hammertoe |
Hammer toe
Hammertoes
[ more ] |
0001765 |
Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
Kyphoscoliosis | 0002751 | |
Motor delay | 0001270 | |
Onion bulb formation | 0003383 | |
Pes cavus |
High-arched foot
|
0001761 |
Segmental peripheral demyelination/remyelination | 0003481 | |
Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
Upper limb postural tremor | 0007351 |
Diagnosis
RLS is caused by alterations in the MPZ or the PMP22 genes.[6] 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
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 https://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.
Treatment
- 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 tremorsPhysical 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.[10] 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.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Charcot-Marie-Tooth Association
PO Box 105
Glenolden, PA 19036
Toll-free: 1-800-606-2682
Telephone: +1-610-499-9264
Fax: +1-610-499-9267
E-mail: [email protected]
Website: https://www.cmtausa.org/ -
Charcot-Marie-Tooth Association Australia Inc.
Building 22
Concord Hospital
Concord, NSW, 2139 Australia
Telephone: (02) 9767 5105
E-mail: [email protected]
Website: https://www.cmt.org.au -
Charcot-Marie-Tooth UK (CMT UK)
3 Groveley Road
Christchurch, Dorset BH23 3HB
United Kingdom
Telephone: 0300 323 6316
E-mail: [email protected]
Website: https://www.cmt.org.uk/ -
CMT Research Foundation
4062 Peachtree Road
Suite A209
Atlanta, GA 30319
Telephone: (404) 806-7180
E-mail: [email protected]
Website: https://cmtrf.org/ -
Hereditary Neuropathy Foundation Inc.
401 Park Avenue, 10th Floor
New York, NY 10016
Toll-free: 1-855-435-7268
Telephone: +1-212-722-8396
Fax: +1-917-591-2758
E-mail: [email protected]
Website: https://www.hnf-cure.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Roussy Levy syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Roussy Levy syndrome. Click on the link to view a sample search on this topic.
References
- Canale & Beaty. Hereditary Motor and Sensory Neuropathies. Campbell's Operative Orthopaedics, 11th edition. Mosby, An Imprint of Elsevier; 2007;
- Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). December, 2015; https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease.
- Roussy-Levy Hereditary Areflexic Dystasia. Online Mendelian Inheritance in Man (OMIM). 2012; https://www.ncbi.nlm.nih.gov/omim/180800.
- Roussy Levy Syndrome. National Organization for Rare Disorders (NORD). 2004; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/785/viewAbstract.
- Kleigman. Chapter 612 Hereditary Motor-Sensory Neuropathies. Nelson Textbook of Pediatrics, 18th edition. Saunders, An Imprint of Elsevier; 2007;
- McKusick VA. Roussy-Levy hereditary areflexic dystasia. Online Mendelian Inheritance in Man. April 19, 2012; https://omim.org/entry/180800.
- Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. European Journal of Human Genetics. 2009;17:703-710; https://www.nature.com/ejhg/journal/v17/n6/abs/ejhg200931a.html. Accessed 4/26/2013.
- MPZ. Genetics Home Reference. January 2010; https://ghr.nlm.nih.gov/gene/MPZ. Accessed 4/26/2013.
- Cruse RP. Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease. UpToDate. April 13, 2016; https://www.uptodate.com/contents/hereditary-primary-motor-sensory-neuropathies-including-charcot-marie-tooth-disease.
- Bird TD. Charcot-Marie-Tooth Neuropathy Type 1. GeneReviews. March 26, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1205/.
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