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Distal myopathy

MedGen UID:
155541
•Concept ID:
C0751336
•
Disease or Syndrome
Synonyms: Distal Muscular Dystrophies; Distal Muscular Dystrophy; Distal Myopathies; Distal Myopathy; Muscular Dystrophies, Distal; Muscular Dystrophy, Distal; Myopathies, Distal; Myopathy, Distal
SNOMED CT: Distal myopathy (58795000); Distal muscular dystrophy (58795000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018949
OMIM® Phenotypic series: PS160500
Orphanet: ORPHA599

Definition

Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal myopathy

Professional guidelines

PubMed

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Yu M, Zhu Y, Lu Y, Lv H, Zhang W, Yuan Y, Wang Z
Orphanet J Rare Dis 2020 Dec 9;15(1):344. doi: 10.1186/s13023-020-01626-y. PMID: 33298082Free PMC Article
Clinical utility gene card for: Laing distal myopathy.
Lamont P, Wallefeld W, Davis M, Udd B, Laing N
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.190. PMID: 21150886Free PMC Article
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
Malicdan MC, Noguchi S, Nishino I
Curr Opin Neurol 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. PMID: 18769255

Recent clinical studies

Etiology

Distal myopathy.
Savarese M, Jokela M, Udd B
Handb Clin Neurol 2023;195:497-519. doi: 10.1016/B978-0-323-98818-6.00002-9. PMID: 37562883
Distal Myopathies.
Felice KJ
Neurol Clin 2020 Aug;38(3):637-659. Epub 2020 Jun 11 doi: 10.1016/j.ncl.2020.03.007. PMID: 32703474
A pattern recognition approach to patients with a suspected myopathy.
Barohn RJ, Dimachkie MM, Jackson CE
Neurol Clin 2014 Aug;32(3):569-93, vii. doi: 10.1016/j.ncl.2014.04.008. PMID: 25037080Free PMC Article
Distal myopathies.
Pénisson-Besnier I
Rev Neurol (Paris) 2013 Aug-Sep;169(8-9):534-45. Epub 2013 Sep 3 doi: 10.1016/j.neurol.2012.09.021. PMID: 24008050
Distal myopathies.
Mastaglia FL, Lamont PJ, Laing NG
Curr Opin Neurol 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. PMID: 16155432

Diagnosis

Distal myopathy.
Savarese M, Jokela M, Udd B
Handb Clin Neurol 2023;195:497-519. doi: 10.1016/B978-0-323-98818-6.00002-9. PMID: 37562883
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B
Acta Myol 2020 Dec;39(4):245-265. Epub 2020 Dec 1 doi: 10.36185/2532-1900-028. PMID: 33458580Free PMC Article
Distal Myopathies.
Felice KJ
Neurol Clin 2020 Aug;38(3):637-659. Epub 2020 Jun 11 doi: 10.1016/j.ncl.2020.03.007. PMID: 32703474
Distal myopathies.
Dimachkie MM, Barohn RJ
Neurol Clin 2014 Aug;32(3):817-42, x. Epub 2014 May 15 doi: 10.1016/j.ncl.2014.04.004. PMID: 25037092Free PMC Article
A pattern recognition approach to patients with a suspected myopathy.
Barohn RJ, Dimachkie MM, Jackson CE
Neurol Clin 2014 Aug;32(3):569-93, vii. doi: 10.1016/j.ncl.2014.04.008. PMID: 25037080Free PMC Article

Therapy

Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F, Singh S, Oswalia J, Arya R
J Biosci 2024;49 PMID: 38383974
Synthesis of 2-Acetamido-1,3,4-Tri-O-Acetyl-2-Deoxy-D-Mannopyranose -6-Phosphate Prodrugs as Potential Therapeutic Agents.
Pertusati F, Morewood J
Curr Protoc 2022 Aug;2(8):e500. doi: 10.1002/cpz1.500. PMID: 35976612
GNE myopathy: from clinics and genetics to pathology and research strategies.
Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, Roos A
Orphanet J Rare Dis 2018 May 2;13(1):70. doi: 10.1186/s13023-018-0802-x. PMID: 29720219Free PMC Article
Thyrotoxicosis Presenting as Unilateral Drop Foot.
Hara K, Miyata H, Motegi T, Shibano K, Ishiguro H
Intern Med 2017;56(15):2053-2056. Epub 2017 Aug 1 doi: 10.2169/internalmedicine.56.8374. PMID: 28768980Free PMC Article
Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing.
Tal-Goldberg T, Lorain S, Mitrani-Rosenbaum S
Neuromolecular Med 2014 Jun;16(2):322-31. Epub 2013 Nov 22 doi: 10.1007/s12017-013-8278-2. PMID: 24264357

Prognosis

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K, Cheng N, Huan X, Zhang J, Ding Y, Luan X, Liu L, Wang X, Zhu B, Du K, Fan J, Gao M, Xia X, Wang N, Wang T, Xi J, Luo S, Lu J, Zhao C, Yue D, Zhu W
Muscle Nerve 2024 Jun;69(6):708-718. Epub 2024 Apr 1 doi: 10.1002/mus.28092. PMID: 38558464
Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.
Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Corre C, Mello N, David WS, Eichler F
Muscle Nerve 2020 Dec;62(6):681-687. Epub 2020 Aug 20 doi: 10.1002/mus.27039. PMID: 32737993
Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients.
Garibaldi M, Fionda L, Vanoli F, Leonardi L, Loreti S, Bucci E, Di Pasquale A, Morino S, Vizzaccaro E, Merlonghi G, Ceccanti M, Lucchini M, Mirabella M, Andreetta F, Pennisi EM, Petrucci A, Salvetti M, Antonini G
Autoimmun Rev 2020 Apr;19(4):102498. Epub 2020 Feb 14 doi: 10.1016/j.autrev.2020.102498. PMID: 32062029
Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities.
Gilchrist JM, Dandapat S
Hand (N Y) 2020 Sep;15(5):599-607. Epub 2020 Feb 5 doi: 10.1177/1558944719898801. PMID: 32020820Free PMC Article
Distal myopathy.
Satoyoshi E
Tohoku J Exp Med 1990 Aug;161 Suppl:1-19. doi: 10.1620/tjem.161.supplement_1. PMID: 2082493

Clinical prediction guides

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K, Cheng N, Huan X, Zhang J, Ding Y, Luan X, Liu L, Wang X, Zhu B, Du K, Fan J, Gao M, Xia X, Wang N, Wang T, Xi J, Luo S, Lu J, Zhao C, Yue D, Zhu W
Muscle Nerve 2024 Jun;69(6):708-718. Epub 2024 Apr 1 doi: 10.1002/mus.28092. PMID: 38558464
GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation.
Neu CT, Weilepp L, Bork K, Gesper A, Horstkorte R
Glycobiology 2024 Apr 1;34(3) doi: 10.1093/glycob/cwae004. PMID: 38224318Free PMC Article
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Oct 31;13(11) doi: 10.3390/genes13111991. PMID: 36360228Free PMC Article
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.
Naddaf E, Waclawik AJ
J Clin Neuromuscul Dis 2015 Mar;16(3):164-9. doi: 10.1097/CND.0000000000000069. PMID: 25695922
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S
Neuromuscul Disord 2010 May;20(5):335-6. Epub 2010 Mar 25 doi: 10.1016/j.nmd.2010.02.013. PMID: 20346669

Recent systematic reviews

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.
Leung DG
J Neurol 2017 Jul;264(7):1320-1333. Epub 2016 Nov 25 doi: 10.1007/s00415-016-8350-6. PMID: 27888415Free PMC Article

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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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