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) CMD with cataracts and intellectual disability (MDCCAID)
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 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)
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.
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.
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.