U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Sensory ataxic neuropathy

MedGen UID:
336060
Concept ID:
C1843859
Finding
HPO: HP:0003434

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Sensory ataxic neuropathy

Conditions with this feature

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
MedGen UID:
375302
Concept ID:
C1843851
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.
Mitochondrial DNA depletion syndrome 4b
MedGen UID:
462264
Concept ID:
C3150914
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
MedGen UID:
897191
Concept ID:
C4225153
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.

Professional guidelines

PubMed

Kierdaszuk B, Kaliszewska M, Rusecka J, Kosińska J, Bartnik E, Tońska K, Kamińska AM, Kostera-Pruszczyk A
Genes (Basel) 2020 Dec 31;12(1) doi: 10.3390/genes12010054. PMID: 33396418Free PMC Article

Recent clinical studies

Etiology

Kontogeorgiou Z, Kartanou C, Tsirligkani C, Anagnostou E, Rentzos M, Stefanis L, Karadima G, Koutsis G
Clin Genet 2021 Jul;100(1):90-94. Epub 2021 Mar 29 doi: 10.1111/cge.13960. PMID: 33745133
Tranchant C, Anheim M
Rev Neurol (Paris) 2016 Aug-Sep;172(8-9):524-529. Epub 2016 Jul 28 doi: 10.1016/j.neurol.2016.07.003. PMID: 27476418
Riva N, Faccendini S, Lopez ID, Fratelli A, Velardo D, Quattrini A, Gatti R, Comi G, Comola M, Fazio R
J Peripher Nerv Syst 2014 Jun;19(2):145-51. doi: 10.1111/jns5.12065. PMID: 24844760
Habek M, Barun B, Adamec I, Mitrović Z, Ozretić D, Brinar VV
Neurologist 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6. PMID: 22931735
Ito M, Matsuno K, Sakumoto Y, Hirata K, Yuki N
J Neurol Neurosurg Psychiatry 2011 Mar;82(3):294-9. Epub 2011 Jan 20 doi: 10.1136/jnnp.2010.222836. PMID: 21252265

Diagnosis

Lee SU, Kim HJ, Choi JY, Choi KD, Kim JS
JAMA Neurol 2024 Jul 1;81(7):762-770. doi: 10.1001/jamaneurol.2024.1123. PMID: 38739407
Record CJ, Pipis M, Skorupinska M, Blake J, Poh R, Polke JM, Eggleton K, Nanji T, Zuchner S, Cortese A, Houlden H, Rossor AM, Laura M, Reilly MM
Brain 2024 Sep 3;147(9):3144-3156. doi: 10.1093/brain/awae064. PMID: 38481354Free PMC Article
Budumuru U, Sowmini PR, Krishnaswamy MJ, Saravanan SV, Vellaichamy K, Raju VS, Krishnan M
J Assoc Physicians India 2023 Jun;71(6):11-12. PMID: 37355852
Tranchant C, Anheim M
Rev Neurol (Paris) 2016 Aug-Sep;172(8-9):524-529. Epub 2016 Jul 28 doi: 10.1016/j.neurol.2016.07.003. PMID: 27476418
Ito M, Matsuno K, Sakumoto Y, Hirata K, Yuki N
J Neurol Neurosurg Psychiatry 2011 Mar;82(3):294-9. Epub 2011 Jan 20 doi: 10.1136/jnnp.2010.222836. PMID: 21252265

Therapy

Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM
Brain 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. PMID: 32040566Free PMC Article
Kulkantrakorn K
Neurol Sci 2014 Nov;35(11):1827-30. Epub 2014 Jul 24 doi: 10.1007/s10072-014-1902-6. PMID: 25056196
Bandettini di Poggio M, Nesti C, Bruno C, Meschini MC, Schenone A, Santorelli FM
BMC Med Genet 2013 Oct 7;14:105. doi: 10.1186/1471-2350-14-105. PMID: 24099403Free PMC Article
Takeuchi H, Misu K, Hattori N, Nagamatsu M, Sobue G
Neurology 2000 Feb 22;54(4):1008-10. doi: 10.1212/wnl.54.4.1008-a. PMID: 10691009
Asahina M, Kuwabara S, Asahina M, Nakajima M, Hattori T
Neurology 1998 Nov;51(5):1451-3. doi: 10.1212/wnl.51.5.1451. PMID: 9818879

Prognosis

Lee SU, Kim HJ, Choi JY, Choi KD, Kim JS
JAMA Neurol 2024 Jul 1;81(7):762-770. doi: 10.1001/jamaneurol.2024.1123. PMID: 38739407
Sedano MJ, Orizaola P, Gallardo E, García A, Pelayo-Negro AL, Sánchez-Juan P, Infante J, Berciano J
Acta Neurol Scand 2019 Jun;139(6):546-554. Epub 2019 Apr 10 doi: 10.1111/ane.13092. PMID: 30929269
Visser NA, Notermans NC, Degen LA, de Kruijk JR, van den Berg LH, Vrancken AF
J Peripher Nerv Syst 2014 Jun;19(2):136-44. doi: 10.1111/jns5.12063. PMID: 24813907
Rojas-García R, Querol L, Gallardo E, De Luna Salva N, Juarez C, Garces M, Fages E, Casasnovas C, Illa I
J Peripher Nerv Syst 2012 Jun;17(2):158-68. doi: 10.1111/j.1529-8027.2012.00407.x. PMID: 22734901
McHugh JC, Lonergan R, Howley R, O'Rourke K, Taylor RW, Farrell M, Hutchinson M, Connolly S
Muscle Nerve 2010 Feb;41(2):265-9. doi: 10.1002/mus.21494. PMID: 19813183

Clinical prediction guides

Lee SU, Kim HJ, Choi JY, Choi KD, Kim JS
JAMA Neurol 2024 Jul 1;81(7):762-770. doi: 10.1001/jamaneurol.2024.1123. PMID: 38739407
Li LX, Jiang LT, Pan YG, Zhang XL, Pan LZ, Nie ZY, Chen YH, Jin LJ
J Mol Neurosci 2021 Dec;71(12):2462-2467. Epub 2021 Apr 1 doi: 10.1007/s12031-021-01831-9. PMID: 33791913
Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A
Doc Ophthalmol 2021 Feb;142(1):111-118. Epub 2020 Jun 21 doi: 10.1007/s10633-020-09777-w. PMID: 32567010
Riva N, Faccendini S, Lopez ID, Fratelli A, Velardo D, Quattrini A, Gatti R, Comi G, Comola M, Fazio R
J Peripher Nerv Syst 2014 Jun;19(2):145-51. doi: 10.1111/jns5.12065. PMID: 24844760
Chai J, Logigian EL
Curr Opin Neurol 2010 Oct;23(5):509-13. doi: 10.1097/WCO.0b013e32833de6ab. PMID: 20689426

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...