Ataxia neuropathy spectrum
עודכן לאחרונה 18 Aug 2020
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Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).
תיאור
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).
As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or pain in the arms and legs, and motor neuropathy refers to disturbance in the nerves used for muscle movement.
Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
ANS
MIRAS
Mitochondrial recessive ataxia syndrome
SANDO
Sensory ataxia neuropathy dysarthria and ophthalmoplegia
Related patient information and medicines
Patient information leaflet
מחלת צליאק
They are tested either because they are at a higher risk than normal of developing it or because they have developed a condition that could be a complication of the disease, such as osteoporosis or gluten at... Unexplained peripheral neuropathy , which could be gluten neuropathy. Unexplained ataxia, that could be gluten ataxia. (Ataxia is a rare.
Patient information leaflet
נוירופתיה פריפרית
Inflammatory conditions Conditions including sarcoidosis and coeliac disease can also cause peripheral neuro... Hereditary diseases Certain diseases that you can inherit from your parents can cause peripheral neuropathy. Two of the most common of these are Charcot-Marie-Tooth syndrome and Friedreich's ataxia. Idiopathic peripheral neuropathy In a.
Patient information leaflet
אבעבועות רוח במבוגרים ובבני נוער
What is chickenpox. The chickenpox infection is caused by the varicella-zoster virus (VZV). The immune system makes proteins called antibodies during the infection. Inflammation of the lung (pneumonia) is a complication affecting about ... People who smoke are more likely to get this. Inflammation of the brain (encephalitis) and ataxia (problems.
Patient information leaflet
מגע עם אבעבועות רוח בהריון
There are oth... This leaflet is primarily intended for pregnant women who may have come into contact with someone who has chickenpox or shingles. Chickenpox contact in pregnancy A person with chickenpox is very infectious. About 1 in 100 pregnant women who develop chickenpox-related pneumonia die of this serious infection. Brain inflammation.
Patient information leaflet
סוכרת
Maturity-onset dia... Wolfram's syndrome : another genetic cause of diabetes. It is also called DIDMOAD (because it causes diabetes insipidus , diabetes mellitus, optic atrophy and deafness). Other genetic diseases that can cause diabetes : these include אטקסיה של פרידריך and haemochromatosis. What causes diabetes. Diabetes is a condition where.
Patient information leaflet
אבעבועות רוח בילדים
It comes in various brand names. The dose for each age is given with the medicine packet. Paracetamol does not treat the cause of the fever. For example: Reye's syndrome. (a very rare condition with brain a... Inflammation of the heart muscle (myocarditis). Kidney inflammation (glomerulonephritis). Appendicitis. Ataxia (problems co-ordinating.
קריאה נוספת והפניות
- Ataxia neuropathy spectrum; MedlinePlus, National Library of Medicine.
- Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6. doi: 10.1074/jbc.M506762200. Epub 2005 Jul 16.
- Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK26471/
- Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF. Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology. 2005 Jan 25;64(2):371-3. doi: 10.1212/01.WNL.0000149767.51152.83.
- Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89.
- Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501.
- Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M, Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5. Epub 2008 Apr 16.
- Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase gamma mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8.
- Van Goethem G, Martin JJ, Dermaut B, Lofgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord. 2003 Feb;13(2):133-42. doi: 10.1016/s0960-8966(02)00216-x.
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