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Axial muscle atrophy

MedGen UID:
1375190
Concept ID:
C4477031
Finding
HPO: HP:0040287

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAxial muscle atrophy

Professional guidelines

PubMed

Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J
Eur J Hum Genet 2023 Sep;31(9):1023-1031. Epub 2023 Jun 21 doi: 10.1038/s41431-023-01410-z. PMID: 37344571Free PMC Article
Geroin C, Artusi CA, Nonnekes J, Aquino C, Garg D, Dale ML, Schlosser D, Lai Y, Al-Wardat M, Salari M, Wolke R, Labou VT, Imbalzano G, Camozzi S, Merello M, Bloem BR, Capato T, Djaldetti R, Doherty K, Fasano A, Tibar H, Lopiano L, Margraf NG, Moreau C, Ugawa Y, Bhidayasiri R, Tinazzi M; International Parkinson and Movement Disorders Society Task Force on Postural Abnormalities
Mov Disord 2023 May;38(5):732-739. Epub 2023 Apr 20 doi: 10.1002/mds.29377. PMID: 37081741
Bertram KL, Stirpe P, Colosimo C
Toxicon 2015 Dec 1;107(Pt A):148-53. Epub 2015 Jun 13 doi: 10.1016/j.toxicon.2015.06.004. PMID: 26079953

Recent clinical studies

Etiology

Schönnagel L, Zhu J, Camino-Willhuber G, Guven AE, Tani S, Caffard T, Haffer H, Muellner M, Chiapparelli E, Arzani A, Amoroso K, Moser M, Shue J, Tan ET, Carrino JA, Sama AA, Cammisa FP, Girardi FP, Hughes AP
Spine J 2024 Feb;24(2):231-238. Epub 2023 Oct 1 doi: 10.1016/j.spinee.2023.09.020. PMID: 37788745
Kant-Smits K, Bartels B, Asselman FL, Veldhoen ES, van Eijk RPA, van der Pol WL, Hulzebos EHJ
BMC Neurol 2023 Mar 23;23(1):118. doi: 10.1186/s12883-023-03136-3. PMID: 36959618Free PMC Article

Diagnosis

Katirji B, Kesner V, Hejal RB, Alshekhlee A
Neurology 2008 Mar 4;70(10):e36. doi: 10.1212/01.wnl.0000304251.98684.69. PMID: 18316684

Therapy

Kant-Smits K, Bartels B, Asselman FL, Veldhoen ES, van Eijk RPA, van der Pol WL, Hulzebos EHJ
BMC Neurol 2023 Mar 23;23(1):118. doi: 10.1186/s12883-023-03136-3. PMID: 36959618Free PMC Article

Prognosis

Tanskanen M, Paetau A, Salonen O, Salmi T, Lamminen A, Lindsberg P, Somer H, Kiuru-Enari S
Amyloid 2007 Mar;14(1):89-95. doi: 10.1080/13506120601116393. PMID: 17453628

Clinical prediction guides

Schönnagel L, Zhu J, Camino-Willhuber G, Guven AE, Tani S, Caffard T, Haffer H, Muellner M, Chiapparelli E, Arzani A, Amoroso K, Moser M, Shue J, Tan ET, Carrino JA, Sama AA, Cammisa FP, Girardi FP, Hughes AP
Spine J 2024 Feb;24(2):231-238. Epub 2023 Oct 1 doi: 10.1016/j.spinee.2023.09.020. PMID: 37788745
Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B
BMC Med Genet 2017 Sep 19;18(1):105. doi: 10.1186/s12881-017-0463-y. PMID: 28927399Free PMC Article

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