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Amyotrophy of ankle musculature

MedGen UID:
870171
Concept ID:
C4024604
Finding
HPO: HP:0009031

Definition

Atrophy of the muscles of the ankle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmyotrophy of ankle musculature

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

Grady JF, Nagesh D, Smolinski T, Ostermann HC
J Am Podiatr Med Assoc 2023 May-Jun;113(3) doi: 10.7547/17-090. PMID: 37467260
Norte GE, Cousins M, Hogarth DA, Knaus KR, Slater LV, Blemker SS, Hart JM
Knee 2022 Dec;39:38-49. Epub 2022 Sep 17 doi: 10.1016/j.knee.2022.08.018. PMID: 36126493
Wiewiorski M, Dopke K, Steiger C, Valderrabano V
Int Orthop 2012 Oct;36(10):2079-85. Epub 2012 Jun 22 doi: 10.1007/s00264-012-1594-6. PMID: 22722542Free PMC Article
Duvoisin MR, Convertino VA, Buchanan P, Gollnick PD, Dudley GA
Aviat Space Environ Med 1989 Jul;60(7):671-8. PMID: 2764851
Heerkens YF, Woittiez RD, Huijing PA, Huson A, van Ingen Schenau GJ, Rozendal RH
J Biomed Eng 1986 Apr;8(2):95-104. doi: 10.1016/0141-5425(86)90043-9. PMID: 3713153

Diagnosis

Grady JF, Nagesh D, Smolinski T, Ostermann HC
J Am Podiatr Med Assoc 2023 May-Jun;113(3) doi: 10.7547/17-090. PMID: 37467260
Norte GE, Cousins M, Hogarth DA, Knaus KR, Slater LV, Blemker SS, Hart JM
Knee 2022 Dec;39:38-49. Epub 2022 Sep 17 doi: 10.1016/j.knee.2022.08.018. PMID: 36126493
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
Stilwell G, Kilcoyne RF, Sherman JL
J Foot Ankle Surg 1995 Nov-Dec;34(6):583-6; discussion 596. doi: 10.1016/S1067-2516(09)80083-5. PMID: 8646212

Therapy

Belavý DL, Miokovic T, Armbrecht G, Richardson CA, Rittweger J, Felsenberg D
Eur J Appl Physiol 2009 Nov;107(4):489-99. Epub 2009 Aug 13 doi: 10.1007/s00421-009-1136-0. PMID: 19680682
Duvoisin MR, Convertino VA, Buchanan P, Gollnick PD, Dudley GA
Aviat Space Environ Med 1989 Jul;60(7):671-8. PMID: 2764851

Clinical prediction guides

Norte GE, Cousins M, Hogarth DA, Knaus KR, Slater LV, Blemker SS, Hart JM
Knee 2022 Dec;39:38-49. Epub 2022 Sep 17 doi: 10.1016/j.knee.2022.08.018. PMID: 36126493
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
Duvoisin MR, Convertino VA, Buchanan P, Gollnick PD, Dudley GA
Aviat Space Environ Med 1989 Jul;60(7):671-8. PMID: 2764851

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