Hereditary sensory and autonomic neuropathy type IE
آخر تحديث 18 Aug 2020
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Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. It is characterised by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy).
الوصف
Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. It is characterised by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy).
People with HSAN IE develop hearing loss that is caused by abnormalities in the inner ear (sensorineural hearing loss). The hearing loss, which affects both ears, gets worse over time and usually progresses to moderate or severe deafness between the ages of 20 and 35.
Affected individuals experience dementia typically beginning in their thirties. In some people with HSAN IE, changes in personality, such as irritability, apathy, or lack of impulse control, become apparent before problems with thinking skills.
Peripheral neuropathy is caused by impaired function of nerve cells called sensory neurons, which transmit information about sensations such as pain, temperature, and touch. Loss of sensation in the feet and legs, which usually begins in adolescence or early adulthood in people with HSAN IE and worsens over time, can cause difficulty walking. Affected individuals may not be aware of injuries to their feet, which can lead to complications such as open sores and infections. If these complications are severe, amputation of the affected areas may be required.
Some people with HSAN IE also experience recurrent seizures (epilepsy) and sleep problems. The severity of the signs and symptoms of HSAN IE and their age of onset are variable, even among affected members of the same family.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
DNMT1-complex disorder
DNMT1-related dementia, deafness, and sensory neuropathy
Hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss
Hereditary sensory neuropathy type IE
HSAN1E
HSN IE
HSNIE
Related patient information and medicines
Patient information leaflet
الاعتلال العصبي المحيطي
Peripheral neuropathy means damage to one or more of your peripheral nerves. Diabetes is the most common cause of persistent (chronic) peripheral neuropathy. If sensory nerves are damaged, this is known as sensory neuropathy. Muscle paralysis (the muscle is unable to move at all and you don't have a... If autonomic nerves are affected, this is.
Patient information leaflet
الاعتلال العصبي السكري
الاعتلال العصبي السكري is a type of nerve damage that can occur if you have diabetes. الاعتلال العصبي السكري is a common complication of both type 1 diabetes and type 2 diabetes. The best way to prevent or treat diabetic neuropathy is to keep your blood sugar (glucose) and blood pressure well controlled, to attend regular diabetes checks and to avoid.
Patient information leaflet
متلازمة غيلان باريه
Guillain-Barré syndrome affects the nerves of the limbs and body and is usually triggered by an infection. The main symptom is sudden onset weakness of the muscles that are supplied by the affected nerves. With ... What is Guillain-Barré syndrome. Guillain-Barré syndrome (GBS) is a disease that affects nerves throughout the body and limbs. It is.
Patient information leaflet
الوقاية من السقوط لدى كبار السن
Although most falls do not cause injury, the results of a fall can be serious. If you break a bone this can lead to long-term disability. Broken bones do not always heal completely as you get o... Alcohol: apart from the fact that alcohol can make you drowsy and clumsy, it can also cause long-term medical problems that make falls more likely..
Patient information leaflet
متلازمة شوغرن
متلازمة شوغرن هو autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
Patient information leaflet
الدوار
Dizzine... People use the word 'dizzy' to refer to different sensations - the most important distinction is between feeling lightheaded and the spinning sensation which is medically known as vertigo. This leaflet gives a brief overview of the causes of dizziness. Feeling faint or light-headed, as if about to pass out or collapse. For example,.
قراءة إضافية ومراجع
- Hereditary sensory and autonomic neuropathy type IE; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1093/brain/awv010. Epub 2015 Feb 11.
- Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, Kwok J, Mer G, Dyck PJ, Nicholson GA. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology. 2013 Feb 26;80(9):824-8. doi: 10.1212/WNL.0b013e318284076d. Epub 2013 Jan 30.
- Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1.
- Sun Z, Wu Y, Ordog T, Baheti S, Nie J, Duan X, Hojo K, Kocher JP, Dyck PJ, Klein CJ. Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. Epigenetics. 2014 Aug;9(8):1184-93. doi: 10.4161/epi.29676. Epub 2014 Jul 7.
- Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, Hashiguchi A, Sakiyama Y, Yoshimura A, Takashima H. Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. J Peripher Nerv Syst. 2013 Mar;18(1):89-93. doi: 10.1111/jns5.12012.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Jun 2017 | نُشر في الأصل
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