Hereditary sensory neuropathy type 1

Is genetic testing recommended for hereditary sensory neuropathy type 1?

We are not able to recommend or discourage the use of genetic testing. The National Human Genome Research Institute (NHGRI) Web site has a comprehensive information page entitled Frequently Asked Questions About Genetic Testing. This page includes information about how to decide whether to have genetic testing. Genetic counselors can also help people to decide whether genetic testing is right for them.

Last updated on 05-01-20

Is genetic testing available for hereditary sensory neuropathy type 1?

At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found:

  • HSN1A (the most common form) is associated with mutations in the SPTLC1 gene

  • HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified

  • HSN1C is caused by mutations in the SPTLC2 gene

  • HSN1D is caused by mutations in the ATL1 gene (the same gene is associated with early-onset hereditary spastic paraplegia 3A)

  • HSN1E is caused by mutations in the DNMT1 gene

The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1.

If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms.

Last updated on 05-01-20

How is hereditary sensory neuropathy type 1 inherited?

Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. In rare cases, a mutation that causes HSN1 occurs sporadically as a new ( de novo ) mutation in a person without an affected parent.

Last updated on 05-01-20

Where can I find good resources related to hereditary sensory neuropathy type 1?

You can find links to resources that contain basic and in-depth information on hereditary sensory neuropathy type 1 (HSN1) on our Web page. Use the left-hand menu to find information about a specific topic related to HSN1. Visit our HSN1 Organizations page to find organizations that provide either general or disease-specific support.

You can also find relevant articles on HSN1 through PubMed, a searchable database of biomedical journal articles. Not all of the articles are available for free online, but most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site.

Last updated on 05-01-20

Can unaffected family members pass hereditary sensory neuropathy type 1 on to their children?

In most cases, a person that inherits a disease-causing mutation for hereditary sensory neuropathy type 1 (HSN1) from an affected parent will also be affected. However, there have been reports of people inheriting a mutation from an affected parent and not being affected. This phenomenon is known as reduced penetrance; it means that not all people that inherit a disease-causing mutation will develop signs and symptoms of the condition.

In autosomal dominant conditions with reduced penetrance, unaffected people who carry a mutation can still pass the condition on to their children. There is a 50% (1 in 2) risk to pass the mutation on to each child. A child that inherits the mutation may have signs and symptoms, even though the parent did not.

Last updated on 05-01-20

How might hereditary sensory neuropathy type 1 be treated?

Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains.

Last updated on 05-01-20

Can hereditary sensory neuropathy type 1 be cured?

At this time there is no cure for hereditary sensory neuropathy type 1. Treatment is symptomatic and supportive.

Last updated on 05-01-20

Patient Registry

RDCRN - Inherited Neuropathies Consortium

The Inherited Neuropathies Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with Charcot Marie Tooth disease through research. The Inherited Neuropathies Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

Last updated on 04-27-20

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: The Center for Peripheral Neuropathy Department of Neurology University of Chicago
5841 S. Maryland Ave MC 2030
Chicago, IL, 60637, United States
Url: http://peripheralneuropathycenter.uchicago.edu/
Name: Neuropathy Association 60 East 42nd Street Suite 942
New York, NY, 10165, United States
Phone: 212-692-0662 Email: info@neuropathy.org Url: http://www.neuropathy.org/
Name: The Foundation for Peripheral Neuropathy 485 Half Day Road Suite 350
Buffalo Grove, IL, 60089,
Phone: +1-877-883-9942 Fax : +1-847-883-9960 Email: https://www.foundationforpn.org/contact-us/ Url: https://www.foundationforpn.org
Name: Deater Foundation, Inc. PO Box 255
White Deer, PA, 17887, United States
Email: deaterfoundation@yahoo.com Url: http://www.deaterfoundation.org/

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