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Abnormal skeletal muscle morphology

MedGen UID:
868776
•Concept ID:
C4023181
•
Anatomical Abnormality
Synonyms: Abnormal muscle morphology; Abnormality of muscle morphology; Abnormally shaped muscle; Issue with muscle structure
 
HPO: HP:0011805

Definition

A structural abnormality of a skeletal muscle. [from HPO]

Term Hierarchy

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

Conditions with this feature

Carey-Fineman-Ziter syndrome 2
MedGen UID:
1800921
•Concept ID:
C5677012
•
Disease or Syndrome
Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive neuromuscular disorder characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency. Additional variable features include hearing loss, scoliosis, joint contractures, cleft palate, hypoglossia, and abnormalities on neuroimaging studies (summary by Rahman et al., 2024). For a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 (254940).
See: Condition Record
Carey-Fineman-Ziter syndrome 2

Professional guidelines

PubMed

Pathophysiology and mechanisms of primary sarcopenia (Review).
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Proctalgia Syndromes: Update in Diagnosis and Management.
Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Prenatal diagnosis.
Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035

Recent clinical studies

Etiology

Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Pathological defects in congenital myopathies.
Sewry CA
J Muscle Res Cell Motil 2008;29(6-8):231-8. Epub 2008 Dec 30 doi: 10.1007/s10974-008-9155-8. PMID: 19115049
Congenital myopathies.
Bruno C, Minetti C
Curr Neurol Neurosci Rep 2004 Jan;4(1):68-73. doi: 10.1007/s11910-004-0015-7. PMID: 14683632
Congenital myopathies.
Goebel HH
Semin Pediatr Neurol 1996 Jun;3(2):152-61. doi: 10.1016/s1071-9091(96)80043-x. PMID: 8795848

Diagnosis

The Role of Peroneal Tendinopathy and the Cavovarus Foot and Ankle.
Visser HJ, Savage BT, Moradia JJ, Duddy RK
Clin Podiatr Med Surg 2021 Jul;38(3):445-460. doi: 10.1016/j.cpm.2021.02.006. PMID: 34053654
Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Popliteal vascular entrapment.
di Marzo L, Cavallaro A
World J Surg 2005;29 Suppl 1:S43-5. doi: 10.1007/s00268-004-2058-y. PMID: 15815834
Congenital myopathies.
Bruno C, Minetti C
Curr Neurol Neurosci Rep 2004 Jan;4(1):68-73. doi: 10.1007/s11910-004-0015-7. PMID: 14683632
Omphalocele.
Mahour GH
Surg Gynecol Obstet 1976 Nov;143(5):821-8. PMID: 136050

Therapy

Eccentric training effects for patients with post-stroke hemiparesis on strength and speed gait: A randomized controlled trial.
Lattouf NA, Tomb R, Assi A, Maynard L, Mesure S
NeuroRehabilitation 2021;48(4):513-522. doi: 10.3233/NRE-201601. PMID: 33967063
Sarcopenia in cirrhosis: from pathogenesis to interventions.
Ebadi M, Bhanji RA, Mazurak VC, Montano-Loza AJ
J Gastroenterol 2019 Oct;54(10):845-859. Epub 2019 Aug 7 doi: 10.1007/s00535-019-01605-6. PMID: 31392488Free PMC Article
Targeting angiogenesis in Duchenne muscular dystrophy.
Podkalicka P, Mucha O, Dulak J, Loboda A
Cell Mol Life Sci 2019 Apr;76(8):1507-1528. Epub 2019 Feb 15 doi: 10.1007/s00018-019-03006-7. PMID: 30770952Free PMC Article
Blood flow restriction training and the exercise pressor reflex: a call for concern.
Spranger MD, Krishnan AC, Levy PD, O'Leary DS, Smith SA
Am J Physiol Heart Circ Physiol 2015 Nov;309(9):H1440-52. Epub 2015 Sep 4 doi: 10.1152/ajpheart.00208.2015. PMID: 26342064Free PMC Article
Angiogenesis.
Kontos CD, Annex BH
Curr Atheroscler Rep 1999 Sep;1(2):165-71. doi: 10.1007/s11883-999-0013-y. PMID: 11122706

Prognosis

Pathophysiology and mechanisms of primary sarcopenia (Review).
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Skeletal muscle aging: influence of oxidative stress and physical exercise.
Gomes MJ, Martinez PF, Pagan LU, Damatto RL, Cezar MDM, Lima ARR, Okoshi K, Okoshi MP
Oncotarget 2017 Mar 21;8(12):20428-20440. doi: 10.18632/oncotarget.14670. PMID: 28099900Free PMC Article
Pollicization in congenital differences.
Foucher G, Medina J, Lorea P, Pivato G, Szabó Z
Handchir Mikrochir Plast Chir 2004 Apr-Jun;36(2-3):146-51. doi: 10.1055/s-2004-817902. PMID: 15162313
Prenatal diagnosis.
Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035
Amyopathic dermatomyositis.
Olsen NJ, Park JH, King LE Jr
Curr Rheumatol Rep 2001 Aug;3(4):346-51. doi: 10.1007/s11926-001-0039-9. PMID: 11470054

Clinical prediction guides

Morphological and functional assessment of the flexor carpi radialis brevis using conventional ultrasound and elastography.
Durand S, Collinot JA, Christen T, Becce F, Voser T
Surg Radiol Anat 2021 May;43(5):721-726. Epub 2021 Jan 4 doi: 10.1007/s00276-020-02660-y. PMID: 33398519
Muscle ultrasound: Present state and future opportunities.
Wijntjes J, van Alfen N
Muscle Nerve 2021 Apr;63(4):455-466. Epub 2020 Oct 13 doi: 10.1002/mus.27081. PMID: 33051891Free PMC Article
Skeletal muscle aging: influence of oxidative stress and physical exercise.
Gomes MJ, Martinez PF, Pagan LU, Damatto RL, Cezar MDM, Lima ARR, Okoshi K, Okoshi MP
Oncotarget 2017 Mar 21;8(12):20428-20440. doi: 10.18632/oncotarget.14670. PMID: 28099900Free PMC Article
Popliteal entrapment syndrome and age.
Schweizer M, Hügli R, Koella C, Jeanneret C
Vasa 2012 Jul;41(4):262-8. doi: 10.1024/0301-1526/a000201. PMID: 22825859
Arthrogryposis and amyoplasia.
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044

Recent systematic reviews

Muscle dysmorphia: A systematic and meta-analytic review of the literature to assess diagnostic validity.
Cooper M, Eddy KT, Thomas JJ, Franko DL, Carron-Arthur B, Keshishian AC, Griffiths KM
Int J Eat Disord 2020 Oct;53(10):1583-1604. Epub 2020 Aug 1 doi: 10.1002/eat.23349. PMID: 32737999
The biology of human overfeeding: A systematic review.
Bray GA, Bouchard C
Obes Rev 2020 Sep;21(9):e13040. Epub 2020 Jun 8 doi: 10.1111/obr.13040. PMID: 32515127
Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review.
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2020 May 19;15(1):115. doi: 10.1186/s13023-020-01395-8. PMID: 32429959Free PMC Article
Impact of carpal tunnel syndrome on ulnar nerve at wrist: Systematic review.
Ginanneschi F, Mondelli M, Cioncoloni D, Rossi A
J Electromyogr Kinesiol 2018 Jun;40:32-38. Epub 2018 Mar 20 doi: 10.1016/j.jelekin.2018.03.004. PMID: 29587171
Structural Changes of Lumbar Muscles in Non-specific Low Back Pain: A Systematic Review.
Goubert D, Oosterwijck JV, Meeus M, Danneels L
Pain Physician 2016 Sep-Oct;19(7):E985-E1000. PMID: 27676689

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