KEGG   DISEASE: Distal myopathyHelp
Entry
H00594                      Disease                                

Name
Distal myopathy
  Subgroup
Miyoshi myopathy (MM) [DS:H01965]
Nonaka distal myopathy with rimmed vacuoles (DMRV) [DS:H00596]
Welander distal myopathy (WDM) [DS:H01975]
Tibial muscular dystrophy (TMD) [DS:H01976]
Laing distal myopathy (MPD1) [DS:H01977]
Distal myopathy with anterior tibial onset [DS:H00566]
Distal myopathy, Tateyama type [DS:H02182]
Williams distal myopathy (MPD4)
Description
Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00594  Distal myopathy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C75  Distal myopathies
     H00594  Distal myopathy
BRITE hierarchy
Pathway
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa04260  Cardiac muscle contraction
hsa04530  Tight junction
hsa04141  Protein processing in endoplasmic reticulum
Gene
(MM1,DMAT) DYSF [HSA:8291] [KO:K18261]
(MM3) ANO5 [HSA:203859] [KO:K19480]
(DMRV) GNE [HSA:10020] [KO:K12409]
(WDM) TIA1 [HSA:7072] [KO:K13201]
(TMD) TTN [HSA:7273] [KO:K12567]
(MPD1) MYH7 [HSA:4625] [KO:K17751]
(MPD4) FLNC [HSA:2318] [KO:K04437]
(MPD5) ADSSL1 [HSA:122622] [KO:K01939]
(MPDT) CAV3 [HSA:859] [KO:K12959]
Comment
For myofibrillar myopathies, see H00595.
Other DBs
ICD-11: 8C75
ICD-10: G71.0 G71.8
MeSH: D049310
OMIM: 254130 613319 605820 604454 600334 160500 614065 614321 617030 606768
Reference
  Authors
Udd B
  Title
Genetics and pathogenesis of distal muscular dystrophies.
  Journal
Adv Exp Med Biol 652:23-38 (2009)
DOI:10.1007/978-90-481-2813-6_3
Reference
  Authors
Udd B
  Title
Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
  Journal
Biochim Biophys Acta 1772:145-58 (2007)
DOI:10.1016/j.bbadis.2006.08.005
Reference
  Authors
Malicdan MC, Nonaka I
  Title
Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.
  Journal
Neurol India 56:314-24 (2008)
DOI:10.4103/0028-3886.43450
Reference
  Authors
Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R
  Title
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
  Journal
Traffic 8:77-88 (2007)
DOI:10.1111/j.1600-0854.2006.00505.x
Reference
  Authors
Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B
  Title
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
  Journal
Ann Neurol 73:500-9 (2013)
DOI:10.1002/ana.23831
Reference
  Authors
Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schoffler W, van der Ven PFM, Furst DO, Song J, Djinovic-Carugo K, Penttila S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG
  Title
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
  Journal
Am J Hum Genet 88:729-740 (2011)
DOI:10.1016/j.ajhg.2011.04.021
Reference
  Authors
Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO
  Title
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
  Journal
Ann Neurol 79:231-43 (2016)
DOI:10.1002/ana.24550

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