U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal axial muscle morphology

MedGen UID:
1384820
•Concept ID:
C4477030
•
Anatomical Abnormality
Synonym: Abnormality of axial muscles
 
HPO: HP:0040286

Definition

A structural anomaly of the muscles of the trunk and head. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal axial muscle morphology

Professional guidelines

PubMed

Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population.
Ochoa JH, Chiesa M, Vildoza RP, Wong AE, Sepulveda W
Ultrasound Obstet Gynecol 2012 May;39(5):521-7. doi: 10.1002/uog.9083. PMID: 21728206
Evaluation and treatment of posterior neck pain in family practice.
Douglass AB, Bope ET
J Am Board Fam Pract 2004 Nov-Dec;17 Suppl:S13-22. doi: 10.3122/jabfm.17.suppl_1.s13. PMID: 15575026
Clinical features and revised diagnostic criteria in Joubert syndrome.
Maria BL, Boltshauser E, Palmer SC, Tran TX
J Child Neurol 1999 Sep;14(9):583-90; discussion 590-1. doi: 10.1177/088307389901400906. PMID: 10488903

Recent clinical studies

Etiology

Botulinum Neurotoxin Injections in Childhood Opisthotonus.
Hull M, Parnes M, Jankovic J
Toxins (Basel) 2021 Feb 12;13(2) doi: 10.3390/toxins13020137. PMID: 33673369Free PMC Article
Postembryonic screen for mutations affecting spine development in zebrafish.
Gray RS, Gonzalez R, Ackerman SD, Minowa R, Griest JF, Bayrak MN, Troutwine B, Canter S, Monk KR, Sepich DS, Solnica-Krezel L
Dev Biol 2021 Mar;471:18-33. Epub 2020 Dec 5 doi: 10.1016/j.ydbio.2020.11.009. PMID: 33290818Free PMC Article
Comparative Sacral Morphology in Spondylolisthesis Patients.
Hresko MT, Deckey DG, Hinchcliff E, Kalish LA
Spine Deform 2019 Nov;7(6):945-949. doi: 10.1016/j.jspd.2019.03.008. PMID: 31732006
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, Julia S, Dulac Y, Tauber M, Edouard T
J Bone Miner Res 2015 Aug;30(8):1369-76. Epub 2015 May 14 doi: 10.1002/jbmr.2471. PMID: 25656438

Diagnosis

Botulinum Neurotoxin Injections in Childhood Opisthotonus.
Hull M, Parnes M, Jankovic J
Toxins (Basel) 2021 Feb 12;13(2) doi: 10.3390/toxins13020137. PMID: 33673369Free PMC Article
Acute Flaccid Myelitis: A Clinical Review.
Murphy OC, Pardo CA
Semin Neurol 2020 Apr;40(2):211-218. Epub 2020 Mar 6 doi: 10.1055/s-0040-1705123. PMID: 32143233
Comparative Sacral Morphology in Spondylolisthesis Patients.
Hresko MT, Deckey DG, Hinchcliff E, Kalish LA
Spine Deform 2019 Nov;7(6):945-949. doi: 10.1016/j.jspd.2019.03.008. PMID: 31732006
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Lymphangioleiomyomatosis.
Taveira-DaSilva AM, Steagall WK, Moss J
Cancer Control 2006 Oct;13(4):276-85. doi: 10.1177/107327480601300405. PMID: 17075565

Therapy

Botulinum Neurotoxin Injections in Childhood Opisthotonus.
Hull M, Parnes M, Jankovic J
Toxins (Basel) 2021 Feb 12;13(2) doi: 10.3390/toxins13020137. PMID: 33673369Free PMC Article
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A
Neurology 2020 Sep 15;95(11):e1512-e1527. Epub 2020 Aug 13 doi: 10.1212/WNL.0000000000010327. PMID: 32796131Free PMC Article
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, Julia S, Dulac Y, Tauber M, Edouard T
J Bone Miner Res 2015 Aug;30(8):1369-76. Epub 2015 May 14 doi: 10.1002/jbmr.2471. PMID: 25656438
Muscle-bone characteristics in children with Prader-Willi syndrome.
Edouard T, Deal C, Van Vliet G, Gaulin N, Moreau A, Rauch F, Alos N
J Clin Endocrinol Metab 2012 Feb;97(2):E275-81. Epub 2011 Dec 7 doi: 10.1210/jc.2011-2406. PMID: 22162467

Prognosis

Diaphragm Morphology Assessed by Computed Tomography in Chronic Obstructive Pulmonary Disease.
Donovan AA, Johnston G, Moore M, Jensen D, Benedetti A, Coxson HO, Gottfried SB, Petrof BJ, Bourbeau J, Smith BM
Ann Am Thorac Soc 2021 Jun;18(6):955-962. doi: 10.1513/AnnalsATS.202007-865OC. PMID: 33321048
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D
Brain 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. PMID: 31081514Free PMC Article
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, Julia S, Dulac Y, Tauber M, Edouard T
J Bone Miner Res 2015 Aug;30(8):1369-76. Epub 2015 May 14 doi: 10.1002/jbmr.2471. PMID: 25656438
Lymphatics in lymphangioleiomyomatosis and idiopathic pulmonary fibrosis.
Glasgow CG, El-Chemaly S, Moss J
Eur Respir Rev 2012 Sep 1;21(125):196-206. doi: 10.1183/09059180.00009311. PMID: 22941884Free PMC Article
Multi-minicore disease revisited.
Nucci A, Queiroz LS, Zambelli HJ, Martins Filho J
Arq Neuropsiquiatr 2004 Dec;62(4):935-9. Epub 2004 Dec 15 doi: 10.1590/s0004-282x2004000600002. PMID: 15608948

Clinical prediction guides

Diaphragm Morphology Assessed by Computed Tomography in Chronic Obstructive Pulmonary Disease.
Donovan AA, Johnston G, Moore M, Jensen D, Benedetti A, Coxson HO, Gottfried SB, Petrof BJ, Bourbeau J, Smith BM
Ann Am Thorac Soc 2021 Jun;18(6):955-962. doi: 10.1513/AnnalsATS.202007-865OC. PMID: 33321048
Recessive MYH7-related myopathy in two families.
Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H
Neuromuscul Disord 2019 Jun;29(6):456-467. Epub 2019 Apr 12 doi: 10.1016/j.nmd.2019.04.002. PMID: 31130376
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, Julia S, Dulac Y, Tauber M, Edouard T
J Bone Miner Res 2015 Aug;30(8):1369-76. Epub 2015 May 14 doi: 10.1002/jbmr.2471. PMID: 25656438
Parkinson's disease with camptocormia.
Bloch F, Houeto JL, Tezenas du Montcel S, Bonneville F, Etchepare F, Welter ML, Rivaud-Pechoux S, Hahn-Barma V, Maisonobe T, Behar C, Lazennec JY, Kurys E, Arnulf I, Bonnet AM, Agid Y
J Neurol Neurosurg Psychiatry 2006 Nov;77(11):1223-8. Epub 2006 Jun 5 doi: 10.1136/jnnp.2006.087908. PMID: 16754693Free PMC Article
Lymphangioleiomyomatosis (LAM): a review of clinical and morphological features.
Ferrans VJ, Yu ZX, Nelson WK, Valencia JC, Tatsuguchi A, Avila NA, Riemenschn W, Matsui K, Travis WD, Moss J
J Nippon Med Sch 2000 Oct;67(5):311-29. doi: 10.1272/jnms.67.311. PMID: 11031360

Recent systematic reviews

Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Grisel's syndrome in otolaryngology: a systematic review.
Karkos PD, Benton J, Leong SC, Mushi E, Sivaji N, Assimakopoulos DA
Int J Pediatr Otorhinolaryngol 2007 Dec;71(12):1823-7. Epub 2007 Aug 13 doi: 10.1016/j.ijporl.2007.07.002. PMID: 17706297

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

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...