KEGG   DISEASE: Congenital muscular dystrophies (CMD/MDC)Help
Entry
H00590                      Disease                                

Name
Congenital muscular dystrophies (CMD/MDC)
  Subgroup
Collagen VI related myopathies [DS:H01341]
Merosin-deficient CMD (MDC1A) [DS:H01958]
Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
Rigid spine syndrome (RSS) [DS:H01310]
Integrin alpha7-deficient CMD
LMNA-deficient CMD
CMD with hyperlaxity (CMDH)
CMD Davignon-Chauveau type (MDCDC)
CMD megaconial type (MDCMC)
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
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00590  Congenital muscular dystrophies (CMD/MDC)
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H00590  Congenital muscular dystrophies (CMD/MDC)
BRITE hierarchy
Pathway
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
Gene
(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583]
(LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641]
(CMDH) ITGA9 [HSA:3680] [KO:K06585]
(MDCDC) TRIP4 [HSA:9325]
(MDCMC) CHKB [HSA:1120] [KO:K14156]
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
Reference
  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
Reference
  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
Reference
  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
Reference
PMID:9590299
  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
Reference
  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
Reference
  Authors
Tetreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B
  Title
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
  Journal
Brain 129:2077-84 (2006)
DOI:10.1093/brain/awl146
Reference
  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
Reference
  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

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