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Weak extraocular muscles

MedGen UID:
347141
Concept ID:
C1859436
Finding
HPO: HP:0007715

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWeak extraocular muscles

Conditions with this feature

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
MedGen UID:
347880
Concept ID:
C1859432
Disease or Syndrome
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
Myopathy, congenital, with structured cores and z-line abnormalities
MedGen UID:
1684705
Concept ID:
C5231445
Disease or Syndrome
Congenital myopathy-8 (CMYP8) is an autosomal dominant disorder of the skeletal muscle characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades. Affected individuals show respiratory insufficiency, high-arched palate, and scoliosis; external ophthalmoplegia may also be present. Skeletal muscle biopsy shows cores and myofibrillar disorganization (Lornage et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).

Professional guidelines

PubMed

Whitaker LA, Schaffer DB
Plast Reconstr Surg 1977 Mar;59(3):352-9. doi: 10.1097/00006534-197703000-00007. PMID: 320612

Recent clinical studies

Etiology

Lai KKH, Aljufairi FMAA, Sebastian JU, Wei Y, Jia R, Chan KKW, Au EYL, Lee ACH, Ng CM, Yuen HKL, Yip WWK, Young AL, Cheng GPM, Tham CCY, Pang CP, Chong KKL
Eur Thyroid J 2024 Aug 1;13(4) Epub 2024 Jul 3 doi: 10.1530/ETJ-23-0129. PMID: 38847819
Zhao Y, Hou Y, Zhao X, Liufu T, Yu M, Zhang W, Xie Z, Zhang VW, Yuan Y, Wang Z
Mol Genet Genomic Med 2024 Jan;12(1):e2328. Epub 2023 Nov 28 doi: 10.1002/mgg3.2328. PMID: 38018320Free PMC Article
Qiu Y, Jin R, Dong X, Shen Y, Ding F, Deng Z, Zhou X, Ning Y, Yang J, Liu F
J Plast Surg Hand Surg 2023 Feb-Dec;57(1-6):533-538. Epub 2023 Jan 20 doi: 10.1080/2000656X.2023.2168275. PMID: 36661892
Couser NL, Lenhart PD, Hutchinson AK
J AAPOS 2012 Aug;16(4):331-5. doi: 10.1016/j.jaapos.2012.02.015. PMID: 22929448Free PMC Article
Hikoya A, Sato M, Tsuzuki K, Koide YM, Asaoka R, Hotta Y
Jpn J Ophthalmol 2009 Jan;53(1):7-11. Epub 2009 Jan 30 doi: 10.1007/s10384-008-0619-6. PMID: 19184302

Diagnosis

Harrison A, Mudhar O, Yoo J, Rampal M
J Med Case Rep 2023 Sep 8;17(1):402. doi: 10.1186/s13256-023-04089-4. PMID: 37679826Free PMC Article
Lee JE, Yang HK, Kim JH, Hwang JM
Br J Ophthalmol 2019 Sep;103(9):1253-1258. Epub 2018 Nov 8 doi: 10.1136/bjophthalmol-2018-312560. PMID: 30409916
Ludwig IH, Clark RA, Stager DR Sr
J AAPOS 2013 Feb;17(1):79-88. doi: 10.1016/j.jaapos.2012.09.019. PMID: 23415038
Biernacki R
Am Orthopt J 2011;61:2-5. doi: 10.3368/aoj.61.1.2. PMID: 22069843
Nagy EV, Toth J, Kaldi I, Damjanovich J, Mezosi E, Lenkey A, Toth L, Szabo J, Karanyi Z, Leovey A
Eur J Endocrinol 2000 Jun;142(6):591-7. doi: 10.1530/eje.0.1420591. PMID: 10832104

Therapy

Harrison A, Mudhar O, Yoo J, Rampal M
J Med Case Rep 2023 Sep 8;17(1):402. doi: 10.1186/s13256-023-04089-4. PMID: 37679826Free PMC Article
Greenberg MF, Pollard ZF
J AAPOS 2005 Aug;9(4):341-5. doi: 10.1016/j.jaapos.2005.04.003. PMID: 16102484
Moncayo R, Moncayo H, Ulmer H, Kainz H
J Altern Complement Med 2004 Aug;10(4):643-50. doi: 10.1089/acm.2004.10.643. PMID: 15353020
Nagayama Y, Kita-Furuyama M, Ando T, Nakao K, Mizuguchi H, Hayakawa T, Eguchi K, Niwa M
J Immunol 2002 Mar 15;168(6):2789-94. doi: 10.4049/jimmunol.168.6.2789. PMID: 11884447
Small RG, Fransen SR, Adams R, Owen WL, Taylor RB 3rd
Ophthalmology 1995 Apr;102(4):599-606. doi: 10.1016/s0161-6420(95)30978-5. PMID: 7724177

Prognosis

Lai KKH, Aljufairi FMAA, Sebastian JU, Wei Y, Jia R, Chan KKW, Au EYL, Lee ACH, Ng CM, Yuen HKL, Yip WWK, Young AL, Cheng GPM, Tham CCY, Pang CP, Chong KKL
Eur Thyroid J 2024 Aug 1;13(4) Epub 2024 Jul 3 doi: 10.1530/ETJ-23-0129. PMID: 38847819
Couser NL, Lenhart PD, Hutchinson AK
J AAPOS 2012 Aug;16(4):331-5. doi: 10.1016/j.jaapos.2012.02.015. PMID: 22929448Free PMC Article
Mojon DS
Br J Ophthalmol 2009 Jun;93(6):747-53. Epub 2009 Feb 11 doi: 10.1136/bjo.2008.153650. PMID: 19211600
Park K, Hong S, Chung W, Kim SS, Byeon SH, Seong GJ, Lee JB, Han SH
Can J Ophthalmol 2008 Dec;43(6):669-72. doi: 10.3129/i08-151. PMID: 19020632
Park DH, Choi SS
Ann Plast Surg 2002 Dec;49(6):604-11. doi: 10.1097/00000637-200212000-00009. PMID: 12461443

Clinical prediction guides

Qiu Y, Jin R, Dong X, Shen Y, Ding F, Deng Z, Zhou X, Ning Y, Yang J, Liu F
J Plast Surg Hand Surg 2023 Feb-Dec;57(1-6):533-538. Epub 2023 Jan 20 doi: 10.1080/2000656X.2023.2168275. PMID: 36661892
Hong SP, Song SY, Cho IC
Ophthalmic Plast Reconstr Surg 2014 Nov-Dec;30(6):468-72. doi: 10.1097/IOP.0000000000000135. PMID: 24777269
Shiba M, Matsuo K, Ban R, Nagai F
J Plast Surg Hand Surg 2012 Oct;46(5):318-25. doi: 10.3109/2000656X.2012.696196. PMID: 22998145
Hupé JM, Bordier C, Dojat M
Neuroimage 2012 May 15;61(1):149-61. Epub 2012 Mar 9 doi: 10.1016/j.neuroimage.2012.03.001. PMID: 22426351
Nagayama Y, Kita-Furuyama M, Ando T, Nakao K, Mizuguchi H, Hayakawa T, Eguchi K, Niwa M
J Immunol 2002 Mar 15;168(6):2789-94. doi: 10.4049/jimmunol.168.6.2789. PMID: 11884447

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