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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
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
Welander distal myopathy outside the Swedish population: phenotype and genotype.
von Tell D, Somer H, Udd B, Edström L, Borg K, Ahlberg G
Neuromuscul Disord 2002 Aug;12(6):544-7. doi: 10.1016/s0960-8966(01)00338-8. PMID: 12117477

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.
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
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

Therapy

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.
Mori-Yoshimura M, Suzuki N, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M
Orphanet J Rare Dis 2023 Aug 11;18(1):241. doi: 10.1186/s13023-023-02850-y. PMID: 37568154Free PMC Article
Recent advances in establishing a cure for GNE myopathy.
Yoshioka W, Nishino I, Noguchi S
Curr Opin Neurol 2022 Oct 1;35(5):629-636. Epub 2022 Aug 11 doi: 10.1097/WCO.0000000000001090. PMID: 35959526
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
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
Elahi B, Laughlin RS, Litchy WJ, Milone M, Liewluck T
Muscle Nerve 2019 Apr;59(4):475-478. Epub 2019 Jan 6 doi: 10.1002/mus.26393. PMID: 30536954
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

Prognosis

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T
Eur J Neurol 2023 Aug;30(8):2506-2517. Epub 2023 May 25 doi: 10.1111/ene.15832. PMID: 37166430
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
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 myopathies: from clinical classification to molecular understanding.
Kraya T, Zierz S
J Neural Transm (Vienna) 2013 Sep;120 Suppl 1:S3-7. Epub 2013 Jul 11 doi: 10.1007/s00702-013-1058-1. PMID: 23842731
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

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B
Acta Neuropathol 2023 Jun;145(6):793-814. Epub 2023 Mar 31 doi: 10.1007/s00401-023-02565-1. PMID: 37000196Free 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
Recent advances in establishing a cure for GNE myopathy.
Yoshioka W, Nishino I, Noguchi S
Curr Opin Neurol 2022 Oct 1;35(5):629-636. Epub 2022 Aug 11 doi: 10.1097/WCO.0000000000001090. PMID: 35959526
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Silva AMS, Coimbra-Neto AR, Souza PVS, Winckler PB, Gonçalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreira CFDR, Camelo CG, Mendonça RDH, Estephan EDP, Reed UC, Machado-Costa MC, Dourado-Junior MET, Pereira VC, Cruzeiro MM, Helito PVP, Aivazoglou LU, Camargo LVD, Gomes HH, Camargo AJSD, Pinto WBVDR, Badia BML, Libardi LH, Yanagiura MT, Oliveira ASB, Nucci A, Saute JAM, França-Junior MC, Zanoteli E
Ann Clin Transl Neurol 2019 Jul;6(7):1225-1238. Epub 2019 Jun 11 doi: 10.1002/acn3.50801. PMID: 31353849Free PMC Article

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
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      Clinical tests in GTR
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