Hereditary sensory and autonomic neuropathy type 1E

How is hereditary sensory and autonomic neuropathy type 1E inherited?

Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) 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 features of the condition. When a person with a mutation that causes HSAN1E has children, each child has a 50% (1/2) chance to inherit the mutated gene. A person who does not inherit the mutation from an affected parent is not at risk to pass the condition on to his/her children.

Last updated on 05-01-20

Are there ways to remove the genetic mutation that causes hereditary sensory and autonomic neuropathy type 1E?

Currently, no gene-based therapies are available for any form of autosomal dominant hereditary sensory neuropathy (HSN). Drug treatments or gene therapy are needed, but require a better understanding of the molecular and functional mechanisms underlying the genes responsible for the condition.

Although gene therapy is a promising treatment option, it is currently an experimental technique. In the future, it may allow doctors to treat a disorder such as HSN. Researchers are testing several approaches to gene therapy but must overcome many technical challenges before the technique becomes a practical approach.

Last updated on 05-01-20

Is there a way to delay the onset or slow the progression of hereditary sensory and autonomic neuropathy type 1E?

There is currently no way to delay the onset or slow the progression of hereditary sensory and autonomic neuropathy type 1E (HSAN1E). There is no effective treatment for HSAN1E, and management focuses on alleviating individual symptoms.

Last updated on 05-01-20

Is there a way to prevent having a child with hereditary sensory and autonomic neuropathy type 1E?

With advanced planning and appropriate testing, it may be possible to prevent having a child with hereditary sensory and autonomic neuropathy type 1E (HSAN1E). However, the specific, disease-causing mutation in an affected family member must be known.

To find out whether a fetus is affected during a pregnancy, prenatal testing may be done by analyzing the DNA of fetal cells taken by chorionic villus sampling (at approximately 10 to 12 weeks gestation) or amniocentesis (usually performed at 15 to 18 weeks gestation). If the mutation that causes HSAN1E is detected in the cells of the fetus, pregnancy options including pregnancy termination may be discussed with a health care provider.

A possible alternative to prenatal diagnosis during a pregnancy is preimplantation genetic diagnosis (PGD) before a pregnancy. PGD is done after in vitro fertilization (IVF) to diagnose a genetic condition in an embryo before it is introduced into the uterus. When undergoing PGD, only embryos known to be unaffected are introduced into the uterus for a possible pregnancy.

Other options that may be considered include egg donation or sperm donation, depending on which parent is affected.

People interested in genetic testing, prenatal diagnosis, and/or preimplantation genetic diagnosis are encouraged to speak with a genetics professional.

Last updated on 05-01-20

How might hereditary sensory and autnomic neuropathy type 1E be treated?

There is currently no effective treatment for any type of hereditary sensory neuropathy. Management of symptoms may include:

  • meticulous care of the distal limbs, which includes proper fit of shoes, prevention and treatment of callus formation, cleaning and protection of wounds, and avoidance of trauma to the hands and feet
  • injury prevention when sensory impairment is significant
  • the use of hearing aids and/or assistive communication methods as needed
  • sedative or antipsychotic medications to help reduce the restlessness, roaming behavior, delusions, and hallucinations associated with dementia
  • psychological support for caregivers

Last updated on 05-01-20

Selected Full-Text Journal Articles

HSAN1E articles

Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61.

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: 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: HSAN1E Society PO Box 1264
Tracy, CA, 95378,
Email: info@hsan1esociety.org Url: https://hsan1esociety.org/

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