Format

Send to:

Choose Destination

Walker-Warburg congenital muscular dystrophy(MDDGA1)

MedGen UID:
75553
Concept ID:
C0265221
Disease or Syndrome
Synonyms: HARD syndrome; MDDGA1; Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome
SNOMED CT: Hydrocephalus, agyria and retinal dysplasia (111504002); Walker Warburg syndrome (111504002); HARD - Hydrocephalus, agyria and retinal dysplasia (111504002); Warburg syndrome (91064002); Hard E syndrome (91064002); Walker-Warburg congenital muscular dystrophy (111504002)
 
Monarch Initiative: MONDO:0000171
OMIM®: 236670
OMIM® Phenotypic series: PS236670
Orphanet: ORPHA899

Definition

Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.\n\nWalker-Warburg syndrome affects the skeletal muscles, which are muscles the body uses for movement. Affected babies have weak muscle tone (hypotonia) and are sometimes described as "floppy." The muscle weakness worsens over time.\n\nWalker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). These individuals may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities of certain parts of the brain, including a region called the cerebellum and the part of the brain that connects to the spinal cord (the brainstem). These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures.\n\nEye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWalker-Warburg congenital muscular dystrophy

Recent clinical studies

Etiology

Kuwayama R, Suzuki Y, Nishikawa M, Kimizu T, Nakajima K, Ikeda T, Mogami Y, Yanagihara K
Brain Dev 2021 Jan;43(1):106-110. Epub 2020 Jul 25 doi: 10.1016/j.braindev.2020.06.017. PMID: 32723526
Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, Kimura E, Murakami T, Sato T, Toda T, Kaiya H, Osawa M
Neuromuscul Disord 2018 Oct;28(10):885-893. Epub 2018 Aug 10 doi: 10.1016/j.nmd.2018.08.001. PMID: 30220444
Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H
Hum Mol Genet 2013 May 1;22(9):1746-54. Epub 2013 Jan 28 doi: 10.1093/hmg/ddt021. PMID: 23359570Free PMC Article
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP
Nat Genet 2012 May;44(5):575-80. doi: 10.1038/ng.2252. PMID: 22522420Free PMC Article
Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA
Clin Genet 2010 Sep;78(3):275-81. Epub 2010 Feb 11 doi: 10.1111/j.1399-0004.2010.01384.x. PMID: 20236121

Diagnosis

Talenti G, Robson C, Severino MS, Alves CA, Chitayat D, Dahmoush H, Smith L, Muntoni F, Blaser SI, D'Arco F
AJNR Am J Neuroradiol 2021 Jan;42(1):167-172. Epub 2020 Oct 29 doi: 10.3174/ajnr.A6858. PMID: 33122211Free PMC Article
Al Dhaibani MA, El-Hattab AW, Ismayl O, Suleiman J
Neuropediatrics 2018 Aug;49(4):289-295. Epub 2018 May 23 doi: 10.1055/s-0038-1651519. PMID: 29791932
Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S
Pediatr Dev Pathol 2018 May-Jun;21(3):319-323. Epub 2017 Mar 23 doi: 10.1177/1093526617698611. PMID: 29187032
Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A
Am J Med Genet A 2017 Nov;173(11):3082-3086. Epub 2017 Oct 5 doi: 10.1002/ajmg.a.38394. PMID: 28980384
Nabhan MM, ElKhateeb N, Braun DA, Eun S, Saleem SN, YungGee H, Hildebrandt F, Soliman NA
Am J Med Genet A 2017 Oct;173(10):2697-2702. Epub 2017 Aug 17 doi: 10.1002/ajmg.a.38393. PMID: 28815891Free PMC Article

Therapy

Yasir M, Huda AU
J Coll Physicians Surg Pak 2020 Oct;30(10):1115-1116. doi: 10.29271/jcpsp.2020.10.1115. PMID: 33143844
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V
Ann Clin Transl Neurol 2020 May;7(5):757-766. Epub 2020 Apr 28 doi: 10.1002/acn3.51042. PMID: 32342672Free PMC Article
Ishigaki K, Kato I, Murakami T, Sato T, Shichiji M, Ishiguro K, Ishizuka K, Funatsuka M, Saito K, Osawa M, Nagata S
Brain Dev 2019 Jan;41(1):43-49. Epub 2018 Aug 1 doi: 10.1016/j.braindev.2018.07.012. PMID: 30077507
Peiris TJ, Indaram M, Koo E, Soul JS, Hunter DG
J AAPOS 2018 Jun;22(3):242-244.e1. Epub 2018 Mar 16 doi: 10.1016/j.jaapos.2017.12.011. PMID: 29555514
Ito M, Fukuda M, Suzuki Y, Wakamoto H, Ishii E
BMC Pediatr 2017 Mar 14;17(1):73. doi: 10.1186/s12887-017-0835-7. PMID: 28292283Free PMC Article

Prognosis

Kuwayama R, Suzuki Y, Nishikawa M, Kimizu T, Nakajima K, Ikeda T, Mogami Y, Yanagihara K
Brain Dev 2021 Jan;43(1):106-110. Epub 2020 Jul 25 doi: 10.1016/j.braindev.2020.06.017. PMID: 32723526
Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S
Pediatr Dev Pathol 2018 May-Jun;21(3):319-323. Epub 2017 Mar 23 doi: 10.1177/1093526617698611. PMID: 29187032
Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D
Eur J Med Genet 2013 Dec;56(12):689-94. Epub 2013 Oct 10 doi: 10.1016/j.ejmg.2013.09.014. PMID: 24120487
Preuss M, Heckmann M, Stein M, Nestler U
Pediatr Neurosurg 2010;46(1):34-8. Epub 2010 May 27 doi: 10.1159/000314999. PMID: 20516736
Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA
Clin Genet 2010 Sep;78(3):275-81. Epub 2010 Feb 11 doi: 10.1111/j.1399-0004.2010.01384.x. PMID: 20236121

Clinical prediction guides

Sato T, Awano H, Ishiguro K, Shichiji M, Murakami T, Shirakawa T, Matsuo M, Nagata S, Ishigaki K
Neuromuscul Disord 2021 Mar;31(3):194-197. Epub 2021 Jan 13 doi: 10.1016/j.nmd.2021.01.005. PMID: 33563515
Kuwayama R, Suzuki Y, Nishikawa M, Kimizu T, Nakajima K, Ikeda T, Mogami Y, Yanagihara K
Brain Dev 2021 Jan;43(1):106-110. Epub 2020 Jul 25 doi: 10.1016/j.braindev.2020.06.017. PMID: 32723526
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V
Ann Clin Transl Neurol 2020 May;7(5):757-766. Epub 2020 Apr 28 doi: 10.1002/acn3.51042. PMID: 32342672Free PMC Article
Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, Kimura E, Murakami T, Sato T, Toda T, Kaiya H, Osawa M
Neuromuscul Disord 2018 Oct;28(10):885-893. Epub 2018 Aug 10 doi: 10.1016/j.nmd.2018.08.001. PMID: 30220444
Sato T, Adachi M, Nakamura K, Zushi M, Goto K, Murakami T, Ishiguro K, Shichiji M, Saito K, Ikai T, Osawa M, Kondo I, Nagata S, Ishigaki K
Neuromuscul Disord 2017 Jan;27(1):45-49. Epub 2016 Sep 20 doi: 10.1016/j.nmd.2016.09.014. PMID: 27818010

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center