| H00594 | |
| H number | H00594 |
| Name | Distal myopathy |
| 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 |
| Network | - |
| Gene | (MMD1,DMAT) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480] (NM) GNE [HSA:10020] [KO:K12409] (DMRV) SQSTM1 [HSA:8878] [KO:K14381] (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) ADSS1 [HSA:122622] [KO:K01939] (MPD6) ACTN2 [HSA:88] [KO:K21073] (MPD7) SMPX [HSA:23676] [KO:K24209] (MPDT) CAV3 [HSA:859] [KO:K12959] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For myofibrillar myopathies, see H00595. |
| Other DBs | ICD-11: 8C75 ICD-10: G71.0 G71.8 MeSH: D049310 OMIM: 254130 606768 613319 605820 617158 604454 600334 160500 614065 617030 618655 301075 614321 |
| Reference | PMID:20225017 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 PMID:17029922 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 PMID:18974558 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 PMID:9731526 (MMD1 DMAT) AUTHORS Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr TITLE Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. JOURNAL Nat Genet 20:31-6 (1998) DOI:10.1038/1682 PMID:17132147 (MMD3) 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 PMID:11528398 (NM) AUTHORS Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S TITLE The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. JOURNAL Nat Genet 29:83-7 (2001) DOI:10.1038/ng718 PMID:26208961 (DMRV) AUTHORS Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evila A, Hackman P, Udd B, Harms MB, Weihl CC TITLE SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. JOURNAL Neurology 85:665-74 (2015) DOI:10.1212/WNL.0000000000001864 PMID:23401021 (WDM) 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 PMID:12145747 (TMD) AUTHORS Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B TITLE Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. JOURNAL Am J Hum Genet 71:492-500 (2002) DOI:10.1086/342380 PMID:15322983 (MPD1) AUTHORS Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG TITLE Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). JOURNAL Am J Hum Genet 75:703-8 (2004) DOI:10.1086/424760 PMID:21620354 (MPD4) 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 PMID:26506222 (MPD5) 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 PMID:30900782 (MPD6) AUTHORS Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, Garcia-Bragado F, Urtizberea JA, Hackman P, Udd B TITLE Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. JOURNAL Ann Neurol 85:899-906 (2019) DOI:10.1002/ana.25470 PMID:33974137 (MPD7) AUTHORS Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B TITLE Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. JOURNAL Acta Neuropathol 142:375-393 (2021) DOI:10.1007/s00401-021-02319-x PMID:15580566 (MPDT) AUTHORS Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C TITLE Molecular and muscle pathology in a series of caveolinopathy patients. JOURNAL Hum Mutat 25:82-9 (2005) DOI:10.1002/humu.20119 |