HSN2
HSN2 is a gene that is associated with the condition Hereditary Sensory and Autonomic Neuropathy Type II (HSAN II). HSAN II is a rare genetic disorder characterized by a loss of sensation, especially in the extremities, and other neurological abnormalities. The HSN2 gene is believed to play a crucial role in the development and function of the peripheral nervous system.
Function[edit | edit source]
The HSN2 gene provides instructions for making a protein that is found in the peripheral nervous system. This system includes all the nerves that connect the brain and spinal cord (the central nervous system) to other parts of the body. The HSN2 protein is particularly important in sensory neurons, which transmit information about sensations such as pain, temperature, and touch to the brain.
Role in Disease[edit | edit source]
Mutations in the HSN2 gene are responsible for causing HSAN II. These mutations lead to the production of an abnormal HSN2 protein that cannot function properly. As a result, sensory neurons may die or work less efficiently, leading to the characteristic features of HSAN II.
Symptoms[edit | edit source]
The symptoms of HSAN II usually begin in infancy or early childhood. They include a loss of sensation in the hands and feet, muscle weakness, and an inability to sweat. Other symptoms may include self-mutilation due to a lack of pain sensation, and in some cases, intellectual disability.
Diagnosis and Treatment[edit | edit source]
Diagnosis of HSAN II is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and regular monitoring for complications.
See Also[edit | edit source]
References[edit | edit source]
- Genetics Home Reference. (n.d.). HSN2 gene. Retrieved from https://ghr.nlm.nih.gov/gene/HSN2
- National Organization for Rare Disorders. (n.d.). Hereditary Sensory and Autonomic Neuropathy Type II. Retrieved from https://rarediseases.org/rare-diseases/hereditary-sensory-and-autonomic-neuropathy-type-ii/
 | This medical article is a stub. You can help WikiMD by expanding it. |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
