| H00590 | |
| H number | H00590 |
| Name | Congenital muscular dystrophies (CMD/MDC) |
| Description | Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system. According to the disease mechanisms, the CMDs may be grouped as follows: defects in genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; defects in ER and nuclear proteins, which are selenoprotein 1 and lamin A/C. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | (ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583] (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641] (MDCDC) TRIP4 [HSA:9325] [KO:K23398] (MDCMC) CHKB [HSA:1120] [KO:K14156] (MDCCAID) INPP5K [HSA:51763] [KO:K24222] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Collagen VI related myopathies [DS:H01341] includes Ullrich CMD (UCMD). Muscular dystrophy-dystroglycanopathy type A [DS:H00120] includes Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama CMD (FCMD). Muscular dystrophy-dystroglycanopathy type B [DS:H01960] includes MDC1C and MDC1D. |
| Other DBs | ICD-11: 8C70.6 ICD-10: G71.0 MeSH: D009136 OMIM: 613204 613205 617066 602541 617404 |
| Reference | PMID:15351421 AUTHORS Muntoni F, Voit T TITLE The congenital muscular dystrophies in 2004: a century of exciting progress. JOURNAL Neuromuscul Disord 14:635-49 (2004) DOI:10.1016/j.nmd.2004.06.009 PMID:21496624 AUTHORS Sparks SE, Escolar DM TITLE Congenital muscular dystrophies. JOURNAL Handb Clin Neurol 101:47-79 (2011) DOI:10.1016/B978-0-08-045031-5.00004-9 PMID:25825463 AUTHORS Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC TITLE Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. JOURNAL Neurology 84:1369-78 (2015) DOI:10.1212/WNL.0000000000001416 PMID:9590299 (ITGA7) AUTHORS Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K TITLE Mutations in the integrin alpha7 gene cause congenital myopathy. JOURNAL Nat Genet 19:94-7 (1998) DOI:10.1038/ng0598-94 PMID:15622532 (LMNA) AUTHORS Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R TITLE p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. JOURNAL Ann Neurol 57:148-51 (2005) DOI:10.1002/ana.20359 PMID:27008887 (TRIP4) AUTHORS Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Faure J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A TITLE The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. JOURNAL Hum Mol Genet 25:1559-73 (2016) DOI:10.1093/hmg/ddw033 PMID:21665002 (CHKB) AUTHORS Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I TITLE A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. JOURNAL Am J Hum Genet 88:845-851 (2011) DOI:10.1016/j.ajhg.2011.05.010 PMID:28190456 (INPP5K) AUTHORS Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bonnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araujo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Muller J, Kingston H, Muller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmuller H, Senderek J TITLE Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. JOURNAL Am J Hum Genet 100:523-536 (2017) DOI:10.1016/j.ajhg.2017.01.024 |