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Toe extensor amyotrophy

MedGen UID:
868722
Concept ID:
C4023127
Disease or Syndrome
HPO: HP:0011916

Definition

Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVToe extensor amyotrophy

Conditions with this feature

MYH7-related skeletal myopathy
MedGen UID:
1647391
Concept ID:
C4552004
Disease or Syndrome
Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal.

Recent clinical studies

Etiology

Bardakov SN, Titova AA, Nikitin SS, Nikitins V, Sokolova MO, Tsargush VA, Yuhno EA, Vetrovoj OV, Carlier PG, Sofronova YV, Isaev АА, Deev RV
BMC Musculoskelet Disord 2024 Feb 16;25(1):146. doi: 10.1186/s12891-024-07270-y. PMID: 38365661Free PMC Article
Liu J, Wang Z, Shen D, Yang X, Liu M, Cui L
Neurol Res 2021 May;43(5):372-380. Epub 2020 Dec 29 doi: 10.1080/01616412.2020.1866354. PMID: 33372862
Hamaguchi K, Kurihara T, Fujimoto M, Iemitsu M, Sato K, Hamaoka T, Sanada K
BMC Geriatr 2017 May 2;17(1):102. doi: 10.1186/s12877-017-0490-8. PMID: 28464798Free PMC Article
Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M
Eur J Neurol 2013 Jun;20(6):968-74. Epub 2013 Mar 26 doi: 10.1111/ene.12129. PMID: 23530687
Sinanovic O, Custovic N
Med Arh 2010;64(4):223-4. PMID: 21246920

Diagnosis

Bardakov SN, Titova AA, Nikitin SS, Nikitins V, Sokolova MO, Tsargush VA, Yuhno EA, Vetrovoj OV, Carlier PG, Sofronova YV, Isaev АА, Deev RV
BMC Musculoskelet Disord 2024 Feb 16;25(1):146. doi: 10.1186/s12891-024-07270-y. PMID: 38365661Free PMC Article
Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I
J Neurol Neurosurg Psychiatry 2008 Feb;79(2):205-8. Epub 2007 Aug 13 doi: 10.1136/jnnp.2007.125435. PMID: 17698502
Partanen J, Laulumaa V, Paljärvi L, Partanen K, Naukkarinen A
J Neurol Sci 1994 Sep;125(2):158-67. doi: 10.1016/0022-510x(94)90029-9. PMID: 7807161
Dahl DS, Peters HA
Arch Neurol 1975 Mar;32(3):195-203. doi: 10.1001/archneur.1975.00490450075011. PMID: 123443
Panayiotopoulos CP, Scarpalezos S
Lancet 1974 Jul 27;2(7874):230. doi: 10.1016/s0140-6736(74)91541-4. PMID: 4135658

Therapy

McComas AJ, Sica RE, Campbell MJ, Upton AR
J Neurol Neurosurg Psychiatry 1971 Aug;34(4):453-60. doi: 10.1136/jnnp.34.4.453. PMID: 4938133Free PMC Article

Prognosis

Hamaguchi K, Kurihara T, Fujimoto M, Iemitsu M, Sato K, Hamaoka T, Sanada K
BMC Geriatr 2017 May 2;17(1):102. doi: 10.1186/s12877-017-0490-8. PMID: 28464798Free PMC Article
Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M
Eur J Neurol 2013 Jun;20(6):968-74. Epub 2013 Mar 26 doi: 10.1111/ene.12129. PMID: 23530687

Clinical prediction guides

Liu J, Wang Z, Shen D, Yang X, Liu M, Cui L
Neurol Res 2021 May;43(5):372-380. Epub 2020 Dec 29 doi: 10.1080/01616412.2020.1866354. PMID: 33372862
Hamaguchi K, Kurihara T, Fujimoto M, Iemitsu M, Sato K, Hamaoka T, Sanada K
BMC Geriatr 2017 May 2;17(1):102. doi: 10.1186/s12877-017-0490-8. PMID: 28464798Free PMC Article
Gallardo E, García A, Combarros O, Berciano J
Brain 2006 Feb;129(Pt 2):426-37. Epub 2005 Nov 29 doi: 10.1093/brain/awh693. PMID: 16317020
Dahl DS, Peters HA
Arch Neurol 1975 Mar;32(3):195-203. doi: 10.1001/archneur.1975.00490450075011. PMID: 123443

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