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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.
 
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

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
Malicdan MC, Noguchi S, Nishino I
Curr Opin Neurol 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. PMID: 18769255
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

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
Felice KJ
Neurol Clin 2020 Aug;38(3):637-659. Epub 2020 Jun 11 doi: 10.1016/j.ncl.2020.03.007. PMID: 32703474
Palmio J, Udd B
Rev Neurol (Paris) 2016 Oct;172(10):587-593. Epub 2016 Sep 13 doi: 10.1016/j.neurol.2016.07.019. PMID: 27638134
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
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

Diagnosis

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
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
Felice KJ
Neurol Clin 2020 Aug;38(3):637-659. Epub 2020 Jun 11 doi: 10.1016/j.ncl.2020.03.007. PMID: 32703474
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
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

Poudel BH, Fletcher S, Wilton SD, Aung-Htut M
Int J Mol Sci 2024 May 21;25(11) doi: 10.3390/ijms25115572. PMID: 38891760Free PMC Article
Mashangva F, Singh S, Oswalia J, Arya R
J Biosci 2024;49 PMID: 38383974
Park YE, Park E, Choi J, Go H, Park DB, Kim MY, Sung NJ, Kim L, Shin JH
Biomed Pharmacother 2023 Dec;168:115689. Epub 2023 Oct 16 doi: 10.1016/j.biopha.2023.115689. PMID: 37852099
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
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

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
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
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
Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong JM, Kim SM, Park KD, Choi BO, Lee JH, Choi YC
Neuromuscul Disord 2017 May;27(5):465-472. Epub 2017 Feb 14 doi: 10.1016/j.nmd.2017.02.004. PMID: 28268051
Satoyoshi E
Tohoku J Exp Med 1990 Aug;161 Suppl:1-19. doi: 10.1620/tjem.161.supplement_1. PMID: 2082493

Clinical prediction guides

Park YE, Park E, Choi J, Go H, Park DB, Kim MY, Sung NJ, Kim L, Shin JH
Biomed Pharmacother 2023 Dec;168:115689. Epub 2023 Oct 16 doi: 10.1016/j.biopha.2023.115689. PMID: 37852099
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
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
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
Nicolau S, Liewluck T, Milone M
Muscle Nerve 2020 Oct;62(4):445-454. Epub 2020 Jun 1 doi: 10.1002/mus.26914. PMID: 32478919

Recent systematic reviews

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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