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

Congenital muscular dystrophies (CMD/MDC)
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)
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.
Nervous system disease; Musculoskeletal disease
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)
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
(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] [KO:K23398]
(MDCMC) CHKB [HSA:1120] [KO:K14156]
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
Muntoni F, Voit T
The congenital muscular dystrophies in 2004: a century of exciting progress.
Neuromuscul Disord 14:635-49 (2004)
Sparks SE, Escolar DM
Congenital muscular dystrophies.
Handb Clin Neurol 101:47-79 (2011)
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
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.
Neurology 84:1369-78 (2015)
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
Mutations in the integrin alpha7 gene cause congenital myopathy.
Nat Genet 19:94-7 (1998)
Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
Ann Neurol 57:148-51 (2005)
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
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
Brain 129:2077-84 (2006)
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
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Hum Mol Genet 25:1559-73 (2016)
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
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Am J Hum Genet 88:845-851 (2011)

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