muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually extremely rare – genetic disorders. Muscular dystrophies are...
30 KB (2,269 words) - 03:51, 8 November 2024
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
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
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
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics....
35 KB (2,822 words) - 01:57, 6 November 2024
larger group of genetic muscle diseases known collectively as congenital muscular dystrophies. The clinical presentation of LAMA2-MD varies according to...
36 KB (3,711 words) - 01:27, 18 December 2024
Muscular Dystrophy Association (MDA) is an American nonprofit organization dedicated to supporting people living with muscular dystrophy, ALS, and related...
47 KB (4,963 words) - 02:21, 22 December 2024
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 (2,019 words) - 14:30, 17 December 2024
deficient) congenital muscular dystrophy (Emery–Dreifuss muscular dystrophy) Collagen VI-related muscular dystrophy (Bethlem myopathy, Ullrich congenital muscular...
9 KB (902 words) - 15:36, 8 September 2024
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...
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associated with Ullrich congenital muscular dystrophy and Bethlem myopathy. Phenotypes associated with Ullrich congenital muscular dystrophy are typically more...
19 KB (2,434 words) - 14:06, 9 October 2024
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) - 01:14, 24 October 2024
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) - 13:46, 28 December 2024
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
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
Omigapil (section Congenital muscular dystrophy)
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
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 (4,557 words) - 07:24, 11 November 2024
Megaconial Congenital Muscular Dystrophy (MDCMC), and Narcolepsy. CHKB mutations have been majorly associated with Megaconial Congenital Muscular Dystrophy (MDCMC)...
14 KB (1,598 words) - 06:36, 30 September 2024
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) - 12:45, 23 September 2024
Arthrogryposis (redirect from Arthrogryposis due to muscular dystrophy)
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
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)...
34 KB (3,632 words) - 15:09, 26 December 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) - 22:01, 8 September 2024
(2013). "Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy". Mol Genet...
41 KB (3,800 words) - 19:04, 11 December 2024
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) Myotonic dystrophy Limb-Girdle (LGMD) Facioscapulohumeral dystrophy (FSHD) Congenital dystrophy...
15 KB (1,733 words) - 04:11, 11 December 2024
who first documented the late-onset form and distinguished it from muscular dystrophy. Very rarely used Dubowitz disease (not to be confused with Dubowitz...
90 KB (10,015 words) - 03:08, 25 November 2024
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
former town in Japan, now part of Kirishima city Fukuyama congenital muscular dystrophy (FCMD) This disambiguation page lists articles associated with...
389 bytes (71 words) - 16:04, 12 November 2023
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 (15,400 words) - 19:29, 4 January 2025
Landseers with muscular dystrophy, called COL6A1. The affected dogs represent a closer animal model for human Ullrich congenital muscular dystrophy than that...
7 KB (544 words) - 02:43, 29 December 2024