• Thumbnail for Muscular dystrophy
    muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually extremely rare – genetic disorders. Muscular dystrophies are...
    30 KB (2,235 words) - 21:42, 21 August 2024
  • Thumbnail for Congenital muscular dystrophy
    Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle...
    34 KB (3,524 words) - 14:14, 13 August 2024
  • Thumbnail for Fukuyama congenital muscular dystrophy
    Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly...
    12 KB (1,218 words) - 14:54, 21 August 2024
  • Thumbnail for Ullrich congenital muscular dystrophy
    Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2. UCMD1 is associated with...
    15 KB (1,320 words) - 14:36, 24 August 2024
  • Thumbnail for Limb–girdle muscular dystrophy
    Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics....
    35 KB (2,786 words) - 02:50, 22 July 2024
  • Thumbnail for LAMA2 related congenital muscular dystrophy
    larger group of genetic muscle diseases known collectively as congenital muscular dystrophies. The clinical presentation of LAMA2-MD varies according to...
    36 KB (3,611 words) - 17:53, 23 August 2024
  • deficient) congenital muscular dystrophy (Emery–Dreifuss muscular dystrophy) Collagen VI-related muscular dystrophy (Bethlem myopathy, Ullrich congenital muscular...
    9 KB (899 words) - 01:15, 30 January 2023
  • associated with Ullrich congenital muscular dystrophy and Bethlem myopathy. Phenotypes associated with Ullrich congenital muscular dystrophy are typically more...
    19 KB (2,434 words) - 18:37, 24 September 2023
  • Muscular Dystrophy Association (MDA) is an American nonprofit organization dedicated to supporting people living with muscular dystrophy, ALS, and related...
    41 KB (4,186 words) - 19:57, 18 August 2024
  • Thumbnail for Muscle contracture
    Muscle contracture (category Muscular system)
    Some congenital muscular dystrophies, such as Bethlem myopathy, Ullrich congenital muscular dystrophy, Merosin-deficient congenital muscular dystrophy (MDC1A)...
    18 KB (2,023 words) - 20:19, 25 July 2024
  • Thumbnail for Bethlem myopathy
    predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on...
    23 KB (2,333 words) - 19:52, 23 August 2024
  • PMID 2703235. S2CID 27942659. "Orphanet: Congenital muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "Corneal dystrophy and perceptive deafness - About...
    42 KB (983 words) - 10:34, 21 August 2024
  • Thumbnail for Myotonic dystrophy
    Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are...
    43 KB (4,556 words) - 18:30, 1 August 2024
  • Thumbnail for Omigapil
    Pharmaceuticals bought the compound for development for the treatment of congenital muscular dystrophy (CMD). Omigapil was first synthesized at Ciba-Geigy, Basel,...
    21 KB (2,218 words) - 08:35, 27 March 2024
  • Thumbnail for Pikachurin
    associated with less binding with other proteins and causes some congenital muscular dystrophy. Pikachurin is the most recently identified dystroglycan ligand...
    11 KB (1,298 words) - 19:18, 12 April 2024
  • Thumbnail for Walker–Warburg syndrome
    cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), is a rare form of autosomal recessive congenital muscular dystrophy. It is associated with...
    8 KB (682 words) - 05:46, 6 July 2024
  • Thumbnail for LMNA-related congenital muscular dystrophy
    Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is...
    5 KB (586 words) - 14:18, 13 December 2023
  • Thumbnail for Emery–Dreifuss muscular dystrophy
    Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles....
    21 KB (1,627 words) - 14:48, 21 August 2024
  • Thumbnail for CHKB (gene)
    Megaconial Congenital Muscular Dystrophy (MDCMC), and Narcolepsy. CHKB mutations have been majorly associated with Megaconial Congenital Muscular Dystrophy (MDCMC)...
    15 KB (1,756 words) - 21:55, 2 January 2024
  • Thumbnail for Glia limitans
    limitans-basal lamina complex have been associated with Fukuyama-type congenital muscular dystrophy (FCMD), which is thought to be the result of micropolygyri,...
    17 KB (2,148 words) - 07:07, 3 December 2023
  • Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) Myotonic dystrophy Limb-Girdle (LGMD) Facioscapulohumeral dystrophy (FSHD) Congenital dystrophy...
    15 KB (1,733 words) - 15:30, 5 August 2024
  • Thumbnail for Spinal muscular atrophy
    who first documented the late-onset form and distinguished it from muscular dystrophy. Very rarely used Dubowitz disease (not to be confused with Dubowitz...
    89 KB (9,953 words) - 10:33, 25 May 2024
  • Thumbnail for Muscle–eye–brain disease
    Muscle–eye–brain disease (category Congenital disorders)
    known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD)...
    33 KB (3,533 words) - 20:13, 14 August 2024
  • Thumbnail for Arthrogryposis
    Adams RD (September 1957). "Arthrogryposis multiplex due to congenital muscular dystrophy". Brain. 80 (3): 319–34. doi:10.1093/brain/80.3.319. PMID 13471804...
    35 KB (3,588 words) - 19:20, 22 July 2024
  • (2013). "Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy". Mol Genet...
    41 KB (3,740 words) - 23:31, 13 August 2024
  • Thumbnail for Fukutin
    Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most...
    10 KB (1,240 words) - 08:02, 22 December 2023
  • Thumbnail for Osteogenesis imperfecta
    homozygous mutation in the FAM46A gene on chromosome 6q14.1. Characterized by congenital bowing of the long bones, Wormian bones, blue sclerae, vertebral collapse...
    150 KB (15,367 words) - 22:00, 29 August 2024
  • Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy...
    4 KB (213 words) - 01:34, 25 February 2024
  • Rigid spine syndrome (category Muscular disorders)
    Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder...
    19 KB (2,165 words) - 11:46, 13 July 2024
  • Thumbnail for Laminin
    particular laminin, laminin-211, is the cause of one form of congenital muscular dystrophy. Laminin-211 is composed of α2, β1, and γ1 chains. This laminin's...
    31 KB (3,430 words) - 03:11, 4 July 2024