Hereditary sensory and autonomic neuropathy type 1E

Title

Other Names:

Hereditary sensory neuropathy with hearing loss and dementia; Hereditary sensory neuropathy type IE; DNMT1-Related Dementia, Deafness, and Sensory Neuropathy; Hereditary sensory neuropathy with hearing loss and dementia; Hereditary sensory neuropathy type IE; DNMT1-Related Dementia, Deafness, and Sensory Neuropathy; HSNIE; HSAN1E; Hereditary sensory neuropathy-deafness-dementia syndrome; Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome; HSN1E See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Metabolic disorders; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Metabolic disorders; Nervous System Diseases See More

This disease is grouped under:

Hereditary sensory neuropathy type 1

Summary Summary

Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSAN1E is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner.^[1]^[2] There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia.^[2]

Last updated: 10/14/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Apathy	Lack of feeling, emotion, interest	0000741
Autosomal dominant inheritance		0000006
Cerebral atrophy	Degeneration of cerebrum	0002059
Decreased number of peripheral myelinated nerve fibers		0003380
Delirium		0031258
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Excessive daytime somnolence		0001262
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Impulsivity	Impulsive	0100710
Irritability	Irritable	0000737
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Osteomyelitis	Bone infection	0002754
Progressive	Worsens with time	0003676
Sensorineural hearing impairment		0000407
Sensory neuropathy	Damage to nerves that sense feeling	0000763

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Last updated: 12/1/2018

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Inheritance Inheritance

Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is inherited in an autosomal dominant manner.^[1] 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: 10/14/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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.

Treatment Treatment

There is currently no effective treatment for any type of hereditary sensory neuropathy. Management of symptoms may include:^[2]^[3]

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: 10/14/2015

Organizations 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

Hereditary Neuropathy Foundation Inc.
401 Park Avenue, 10th Floor
New York, NY 10016
Toll-free: 855-435-7268
Telephone: 212-722-8396
E-mail: info@hnf-cure.org
Website: http://www.hnf-cure.org/
HSAN1E Society
PO Box 1264
Tracy, CA 95378
E-mail: info@hsan1esociety.org
Website: https://hsan1esociety.org/
The Center for Peripheral Neuropathy
Department of Neurology
University of Chicago
5841 S. Maryland Ave
MC 2030
Chicago, IL 60637
Website: http://peripheralneuropathycenter.uchicago.edu/

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Learn More 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 Hereditary sensory and autonomic neuropathy type 1E. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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 Hereditary sensory and autonomic neuropathy type 1E. Click on the link to view a sample search on this topic.

Selected Full-Text Journal 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.
The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

This condition has been in my family for many generations on my mother's side. I'm soon planning on being tested for it but I was wondering if there are ways remove the genetic mutation or ways to slow it down. If one day I decide to have a baby, is there a way to remove this gene to make sure it isn't passed on? See answer
My son recently learned that his father and grandmother had mutations in the DNMT1 gene. This gene has been tied to hereditary sensory and autonomic neuropathy type 1E. Do you have information on how this condition might be treated?
See answer

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References References

Hereditary sensory and autonomic neuropathy type IE. Genetics Home Reference (GHR). November 2012; http://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie.
Christopher J Klein. DNMT1-Related Dementia, Deafness, and Sensory Neuropathy. GeneReviews. May 17, 2012; http://www.ncbi.nlm.nih.gov/books/NBK84112/.
Robert P Cruse. Hereditary sensory and autonomic neuropathies. UpToDate. Waltham, MA: UpToDate; September, 2015;

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