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Progressive spinal muscular atrophy

MedGen UID:
906831
Concept ID:
C4082951
Disease or Syndrome
Synonyms: PMA; progressive muscular atrophy; Progressive muscular atrophy; Progressive Spinal Muscle Atrophy; Progressive spinal muscle degeneration; Progressive spinal muscle wasting; progressive spinal muscular atrophy; pure progressive muscular atrophy
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0009067
Monarch Initiative: MONDO:0018687
Orphanet: ORPHA454706

Definition

Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Progressive spinal muscular atrophy

Professional guidelines

Recent clinical studies

Etiology

Longinetti E, Regodón Wallin A, Samuelsson K, Press R, Zachau A, Ronnevi LO, Kierkegaard M, Andersen PM, Hillert J, Fang F, Ingre C
Amyotroph Lateral Scler Frontotemporal Degener 2018 Nov;19(7-8):528-537. Epub 2018 Oct 9 doi: 10.1080/21678421.2018.1497065. PMID: 30296856
Straver DC, van Asseldonk JT, Notermans NC, Wokke JH, van den Berg LH, Franssen H
J Neurol 2011 Feb;258(2):212-7. Epub 2010 Aug 28 doi: 10.1007/s00415-010-5712-3. PMID: 20803025Free PMC Article
van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, Kremer H
Eur J Hum Genet 1998 Jul-Aug;6(4):376-82. doi: 10.1038/sj.ejhg.5200229. PMID: 9781046
Gordon PH, Rowland LP, Younger DS, Sherman WH, Hays AP, Louis ED, Lange DJ, Trojaborg W, Lovelace RE, Murphy PL, Latov N
Neurology 1997 Jun;48(6):1671-8. doi: 10.1212/wnl.48.6.1671. PMID: 9191785
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958

Diagnosis

Longinetti E, Regodón Wallin A, Samuelsson K, Press R, Zachau A, Ronnevi LO, Kierkegaard M, Andersen PM, Hillert J, Fang F, Ingre C
Amyotroph Lateral Scler Frontotemporal Degener 2018 Nov;19(7-8):528-537. Epub 2018 Oct 9 doi: 10.1080/21678421.2018.1497065. PMID: 30296856
Lin J, da Silva RJ, Grillo E
Pediatr Neurol 2005 Jul;33(1):72-4. Epub 2005 Apr 13 doi: 10.1016/j.pediatrneurol.2004.12.013. PMID: 15993324
Gordon PH, Rowland LP, Younger DS, Sherman WH, Hays AP, Louis ED, Lange DJ, Trojaborg W, Lovelace RE, Murphy PL, Latov N
Neurology 1997 Jun;48(6):1671-8. doi: 10.1212/wnl.48.6.1671. PMID: 9191785
Hamano K, Tsukamoto H, Yazawa T, Yoshimura M, Takita H
Pediatr Neurol 1994 Jun;10(4):320-4. doi: 10.1016/0887-8994(94)90130-9. PMID: 8068160
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958

Therapy

Mansfeld A, Radafshar M, Thorgeirsson H, Höijer CJ, Segerlantz M
J Palliat Med 2019 Jan;22(1):109-111. doi: 10.1089/jpm.2018.0398. PMID: 30633698
Deenen JC, van Doorn PA, Faber CG, van der Kooi AJ, Kuks JB, Notermans NC, Visser LH, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG
Neuromuscul Disord 2016 Jul;26(7):447-52. Epub 2016 Apr 21 doi: 10.1016/j.nmd.2016.04.011. PMID: 27212207
Pioro EP, Antel JP, Cashman NR, Arnold DL
Neurology 1994 Oct;44(10):1933-8. doi: 10.1212/wnl.44.10.1933. PMID: 7936250
Nielsen JM
Bull Los Angeles Neurol Soc 1965 Dec;30(4):210-1. PMID: 5866990

Prognosis

Raaphorst J, de Visser M, van Tol MJ, Linssen WH, van der Kooi AJ, de Haan RJ, van den Berg LH, Schmand B
J Neurol Neurosurg Psychiatry 2011 Feb;82(2):170-5. Epub 2010 Jun 18 doi: 10.1136/jnnp.2009.204446. PMID: 20562407
van den Berg-Vos RM, Visser J, Franssen H, de Visser M, de Jong JM, Kalmijn S, Wokke JH, van den Berg LH
Brain 2003 May;126(Pt 5):1036-47. doi: 10.1093/brain/awg117. PMID: 12690044
Gordon PH, Rowland LP, Younger DS, Sherman WH, Hays AP, Louis ED, Lange DJ, Trojaborg W, Lovelace RE, Murphy PL, Latov N
Neurology 1997 Jun;48(6):1671-8. doi: 10.1212/wnl.48.6.1671. PMID: 9191785
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958
Gamstorp I
Acta Neurol Scand 1967;43(S31):175. doi: 10.1111/j.1600-0404.1967.tb02106.x. PMID: 4230594

Clinical prediction guides

Straver DC, van den Berg LH, van Doorn PA, Franssen H
J Peripher Nerv Syst 2011 Jun;16(2):108-12. doi: 10.1111/j.1529-8027.2011.00327.x. PMID: 21692909
Raaphorst J, de Visser M, van Tol MJ, Linssen WH, van der Kooi AJ, de Haan RJ, van den Berg LH, Schmand B
J Neurol Neurosurg Psychiatry 2011 Feb;82(2):170-5. Epub 2010 Jun 18 doi: 10.1136/jnnp.2009.204446. PMID: 20562407
Arai H, Tanabe Y, Hachiya Y, Otsuka E, Kumada S, Furushima W, Kohyama J, Yamashita S, Takanashi J, Kohno Y
J Child Neurol 2005 Nov;20(11):871-5. doi: 10.1177/08830738050200110301. PMID: 16417857
Lin J, da Silva RJ, Grillo E
Pediatr Neurol 2005 Jul;33(1):72-4. Epub 2005 Apr 13 doi: 10.1016/j.pediatrneurol.2004.12.013. PMID: 15993324
Forsgren L, Almay BG, Holmgren G, Wall S
Acta Neurol Scand 1983 Jul;68(1):20-9. doi: 10.1111/j.1600-0404.1983.tb04810.x. PMID: 6604389

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