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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10(MDDGA10)

MedGen UID:: 767295
•Concept ID:: C3554381
•: Disease or Syndrome

Synonyms:	MDDGA10; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED

Gene (location): Gene(s) directly associated with this condition or phenotype.	RXYLT1 (12q14.2)

Monarch Initiative:	MONDO:0014022
OMIM®:	615041

Definition

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). [from OMIM]

Clinical features

From HPO

Gonadal dysgenesis

MedGen UID:: 9075
•Concept ID:: C0018051
•: Congenital Abnormality

Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.

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Neural tube defect

MedGen UID:: 18009
•Concept ID:: C0027794
•: Congenital Abnormality

A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.

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Cobblestone lissencephaly

MedGen UID:: 96562
•Concept ID:: C0431376
•: Congenital Abnormality

A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.

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Cerebellar dysplasia

MedGen UID:: 479952
•Concept ID:: C3278322
•: Finding

Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.

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Retinal dysplasia

MedGen UID:: 48433
•Concept ID:: C0035313
•: Congenital Abnormality

The presence of developmental dysplasia of the retina.

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Abnormality of the eye
- Retinal dysplasia
Abnormality of the genitourinary system
- Gonadal dysgenesis
Abnormality of the nervous system

Recent clinical studies

Etiology

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy.

Murakami T, Sato T, Adachi M, Ishiguro K, Shichiji M, Tachimori H, Nagata S, Ishigaki K
Sci Rep 2021 Dec 20;11(1):24229. doi: 10.1038/s41598-021-03781-z. PMID: 34930981 Free PMC Article

National registry of patients with Fukuyama congenital muscular dystrophy in Japan.

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

Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan.

Manya H, Endo T
Biochim Biophys Acta Gen Subj 2017 Oct;1861(10):2462-2472. Epub 2017 Jul 12 doi: 10.1016/j.bbagen.2017.06.024. PMID: 28711406

Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy.

Yamamoto T, Taniguchi-Ikeda M, Awano H, Matsumoto M, Lee T, Harada R, Imanishi T, Hayashi N, Sakai Y, Morioka I, Takeshima Y, Iijima K, Saegusa J, Toda T
Brain Dev 2017 Nov;39(10):861-868. Epub 2017 May 31 doi: 10.1016/j.braindev.2017.05.008. PMID: 28578814

Respiratory management of patients with Fukuyama congenital muscular dystrophy.

Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K
Brain Dev 2016 Mar;38(3):324-30. Epub 2015 Sep 9 doi: 10.1016/j.braindev.2015.08.010. PMID: 26363734

See all (13)

Diagnosis

Respiratory management of patients with Fukuyama congenital muscular dystrophy.

Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K
Brain Dev 2016 Mar;38(3):324-30. Epub 2015 Sep 9 doi: 10.1016/j.braindev.2015.08.010. PMID: 26363734

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

Yiş U, Uyanik G, Rosendahl DM, Carman KB, Bayram E, Heise M, Cömertpay G, Kurul SH
Pediatr Neurol 2014 May;50(5):491-7. Epub 2014 Jan 7 doi: 10.1016/j.pediatrneurol.2014.01.008. PMID: 24731844

Walker-Warburg Syndrome.

Khalaf SS, Tareef RB
J AAPOS 2006 Oct;10(5):486-8. doi: 10.1016/j.jaapos.2006.06.016. PMID: 17070491

Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.

Saito K, Osawa M, Wang ZP, Ikeya K, Fukuyama Y, Kondo-Iida E, Toda T, Ohashi H, Kurosawa K, Wakai S, Kaneko K
Am J Med Genet 2000 May 29;92(3):184-90. doi: 10.1002/(sici)1096-8628(20000529)92:3<184::aid-ajmg5>3.0.co;2-n. PMID: 10817652

MRI of the brain in muscle-eye-brain (MEB) disease.

Valanne L, Pihko H, Katevuo K, Karttunen P, Somer H, Santavuori P
Neuroradiology 1994 Aug;36(6):473-6. doi: 10.1007/BF00593687. PMID: 7991095

See all (23)

Therapy

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy.

Murakami T, Sato T, Adachi M, Ishiguro K, Shichiji M, Tachimori H, Nagata S, Ishigaki K
Sci Rep 2021 Dec 20;11(1):24229. doi: 10.1038/s41598-021-03781-z. PMID: 34930981 Free PMC Article

Anaesthesia Management of a New-born Baby with Walker-Warburg Syndrome undergoing Ventriculoperitoneal Shunt Insertion.

Yasir M, Huda AU
J Coll Physicians Surg Pak 2020 Oct;30(10):1115-1116. doi: 10.29271/jcpsp.2020.10.1115. PMID: 33143844

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R, Audibert F, Brock JA, Brown RN, Campagnolo C, Carroll JC, De Bie I, Johnson JA, Okun N, Pastruck M, Vallée-Pouliot K, Wilson RD, Zwingerman R, Armour C, Chitayat D, De Bie I, Fernandez S, Kim R, Lavoie J, Leonard N, Nelson T, Taylor S, Van Allen M, Van Karnebeek C
J Obstet Gynaecol Can 2016 Aug;38(8):742-762.e3. doi: 10.1016/j.jogc.2016.06.008. PMID: 27638987

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T
Nature 2011 Oct 5;478(7367):127-31. doi: 10.1038/nature10456. PMID: 21979053 Free PMC Article

See all (4)

Prognosis

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Corsten-Janssen N, Bouman K, Diphoorn JCD, Scheper AJ, Kinds R, El Mecky J, Breet H, Verheij JBGM, Suijkerbuijk R, Duin LK, Manten GTR, van Langen IM, Sijmons RH, Sikkema-Raddatz B, Westers H, van Diemen CC
Prenat Diagn 2020 Sep;40(10):1300-1309. Epub 2020 Jul 20 doi: 10.1002/pd.5781. PMID: 32627857 Free PMC Article

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ
Clin Chem 2019 Oct;65(10):1295-1306. Epub 2019 Aug 2 doi: 10.1373/clinchem.2019.305391. PMID: 31375477

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H
Am J Med Genet A 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476. PMID: 18792984 Free PMC Article

Walker-Warburg Syndrome.

Khalaf SS, Tareef RB
J AAPOS 2006 Oct;10(5):486-8. doi: 10.1016/j.jaapos.2006.06.016. PMID: 17070491

See all (7)