Further Outpatient Care

Muscle function, contractures, visual function, seizures, the ability to perform activities of daily living, and cardiopulmonary functions should be assessed at each follow-up visit.

Further Inpatient Care

Patients with alpha-dystroglycanopathies may require prolonged hospitalization. For example, neonates or infants may have progressive disease and have feeding difficulties, cardiopulmonary complications, seizures, or profound mental retardation.

Older children may need admission for orthopedic care or cardiopulmonary complications.

Complications

Complications include the following:

Feeding difficulties
Respiratory failure
Seizures
Contractures and/or scoliosis
Blindness

Prognosis

The prognosis depends on the type of congenital muscular dystrophy.

With severe disease, such as Walker-Warburg syndrome, patients usually die within the first few years of life.

In congenital muscular dystrophy with laminin-α2 deficiency and in some cases of mutations in FKRP, patients occasionally have a relatively normal life span.

Patient Education

Genetic counseling is often helpful to patients and their families to assist in family planning.

Questions

Fukuyama Y, Kwazura M, Haruna H. A peculiar form of congenital muscular dystrophy. Paediatr Univ Tokyo. 1960. 4:5-8:
Sparks SE, Escolar DM. Congenital muscular dystrophies. Handb Clin Neurol. 2011. 101:47-79. [QxMD MEDLINE Link].
Mercuri E, Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012 Jul. 72(1):9-17. [QxMD MEDLINE Link].
Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, et al. Prevalence of congenital muscular dystrophy in Italy: a population study. Neurology. 2015 Mar 3. 84 (9):904-11. [QxMD MEDLINE Link].
Clement EM, Feng L, Mein R, Sewry CA, Robb SA, Manzur AY, et al. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord. 2012 Jun. 22 (6):522-7. [QxMD MEDLINE Link].
Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, et al. Diagnosis and etiology of congenital muscular dystrophy. Neurology. 2008 Jul 29. 71 (5):312-21. [QxMD MEDLINE Link].
Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology. 2007 Sep 4. 69 (10):1035-42. [QxMD MEDLINE Link].
Geranmayeh F, Clement E, Feng LH, et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord. 2010 Apr. 20(4):241-50. [QxMD MEDLINE Link].
Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 Jun 21. 7(7):379-90. [QxMD MEDLINE Link].
Scacheri PC, Gillanders EM, Subramony SH, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology. 2002 Feb 26. 58(4):593-602. [QxMD MEDLINE Link].
Merlini L, Martoni E, Grumati P, et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14. 71(16):1245-53. [QxMD MEDLINE Link].
Nakashima H, Kibe T, Yokochi K. Congenital muscular dystrophy caused by integrin alpha7 deficiency'. Dev Med Child Neurol. 2009 Mar. 51(3):245. [QxMD MEDLINE Link].
Forrest K, Mellerio JE, Robb S, et al. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord. 2010 Nov. 20(11):709-11. [QxMD MEDLINE Link].
Yiu EM, Klausegger A, Waddell LB, et al. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle Nerve. 2011 Jul. 44(1):135-41. [QxMD MEDLINE Link].
Gundesli H, Talim B, Korkusuz P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet. 2010 Dec 10. 87(6):834-41. [QxMD MEDLINE Link].
Schara U, Kress W, Bonnemann CG, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008 May. 12(3):224-30. [QxMD MEDLINE Link].
Schoenmakers E, Agostini M, Mitchell C, et al. Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest. 2010 Dec 1. 120(12):4220-35. [QxMD MEDLINE Link]. [Full Text].
Mitsuhashi S, Ohkuma A, Talim B, et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011 Jun 10. 88(6):845-51. [QxMD MEDLINE Link]. [Full Text].
Akiyama T, Ohtsuka Y, Takata T, Hattori J, Kawakita Y, Saito K. The mildest known case of Fukuyama-type congenital muscular dystrophy. Brain Dev. 2006 Sep. 28(8):537-40. [QxMD MEDLINE Link].
Godfrey C, Escolar D, Brockington M, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006 Nov. 60(5):603-10. [QxMD MEDLINE Link].
Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006 Nov. 60(5):597-602. [QxMD MEDLINE Link].
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct. 130(Pt 10):2725-35. [QxMD MEDLINE Link].
Messina S, Tortorella G, Concolino D, et al. Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology. 2009 Nov 10. 73(19):1599-601. [QxMD MEDLINE Link].
Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26. 72(21):1802-9. [QxMD MEDLINE Link].
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr. 15(4):271-5. [QxMD MEDLINE Link].
Biancheri R, Falace A, Tessa A, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun. 2007 Nov 30. 363(4):1033-7. [QxMD MEDLINE Link].
Clarke NF, Maugenre S, Vandebrouck A, et al. Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet. 2011 Apr. 19(4):452-7. [QxMD MEDLINE Link].
van Reeuwijk J, Grewal PK, Salih MA, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 2007 Jul. 121(6):685-90. [QxMD MEDLINE Link].
Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bonnemann CG. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol. 2008 Feb. 67(2):144-54. [QxMD MEDLINE Link].
Brinas L, Richard P, Quijano-Roy S, et al. Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol. 2010 Oct. 68(4):511-20. [QxMD MEDLINE Link].
Lampe AK, Zou Y, Sudano D, et al. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008 Jun. 29(6):809-22. [QxMD MEDLINE Link].
Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. Neuromuscul Disord. 2005 Mar. 15(3):207-17. [QxMD MEDLINE Link].
Chavanas S, Pulkkinen L, Gache Y, et al. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996 Nov 15. 98(10):2196-200. [QxMD MEDLINE Link]. [Full Text].
Pulkkinen L, Smith FJ, Shimizu H, et al. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet. 1996 Oct. 5(10):1539-46. [QxMD MEDLINE Link].
Rezniczek GA, Walko G, Wiche G. Plectin gene defects lead to various forms of epidermolysis bullosa simplex. Dermatol Clin. 2010 Jan. 28(1):33-41. [QxMD MEDLINE Link].
Jimenez-Mallebrera C, Torelli S, Feng L, et al. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol. 2009 Oct. 19(4):596-611. [QxMD MEDLINE Link]. [Full Text].
Clement EM, Godfrey C, Tan J, et al. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol. 2008 Jan. 65(1):137-41. [QxMD MEDLINE Link].
Keramaris-Vrantsis E, Lu PJ, Doran T, Zillmer A, Ashar J, Esapa CT. Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. Muscle Nerve. 2007 Oct. 36(4):455-65. [QxMD MEDLINE Link].
Roscioli T, Kamsteeg EJ, Buysse K, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of a-dystroglycan. Nat Genet. 2012 May. 44(5):581-5. [QxMD MEDLINE Link]. [Full Text].
Willer T, Lee H, Lommel M, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May. 44(5):575-80. [QxMD MEDLINE Link]. [Full Text].
Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7. 91(6):1135-43. [QxMD MEDLINE Link]. [Full Text].
Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan. 136:269-81. [QxMD MEDLINE Link]. [Full Text].
Manzini MC, Tambunan DE, Hill RS, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 7. 91(3):541-7. [QxMD MEDLINE Link]. [Full Text].
Jae LT, Raaben M, Riemersma M, et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science. 2013 Apr 26. 340(6131):479-83. [QxMD MEDLINE Link].
Stevens E, Carss KJ, Cirak S, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 7. 92(3):354-65. [QxMD MEDLINE Link]. [Full Text].
Jae LT, Raaben M, Riemersma M, et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science. 2013 Apr 26. 340(6131):479-83. [QxMD MEDLINE Link].
Buysse K, Riemersma M, Powell G, et al. Missense mutations in ß-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 2013 May 1. 22(9):1746-54. [QxMD MEDLINE Link]. [Full Text].
Carss KJ, Stevens E, Foley AR, et al. Mutations in GDP-Mannose Pyrophosphorylase BCause Congenital and Limb-Girdle Muscular DystrophiesAssociated with Hypoglycosylation of a-Dystroglycan. American Journal of Human Genetics. 2013/07. 93:1-13. [Full Text].
Kranz C, Jungeblut C, Denecke J, et al. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet. 2007 Mar. 80(3):433-40. [QxMD MEDLINE Link]. [Full Text].
Kapusta L, Zucker N, Frenckel G, et al. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev. 2013 Mar. 18(2):187-96. [QxMD MEDLINE Link]. [Full Text].
Barone R, Aiello C, Race V, et al. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct. 72(4):550-8. [QxMD MEDLINE Link].
Lefeber DJ, Schonberger J, Morava E, et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet. 2009 Jul. 85(1):76-86. [QxMD MEDLINE Link]. [Full Text].
Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord. 2010 Apr. 20 (4):241-50. [QxMD MEDLINE Link].
Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord. 2012 Aug. 22 (8):685-9. [QxMD MEDLINE Link].
Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011 Jun 14. 76 (24):2073-8. [QxMD MEDLINE Link].
Mercuri E, Clements E, Offiah A, et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol. 2010 Feb. 67(2):201-8. [QxMD MEDLINE Link].
Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, et al. 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. Neurology. 2015 Mar 31. 84 (13):1369-78. [QxMD MEDLINE Link].
Baker NL, Morgelin M, Peat R, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15. 14(2):279-93. [QxMD MEDLINE Link].
Barresi R, Michele DE, Kanagawa M. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004 Jul. 10(7):696-703. [QxMD MEDLINE Link].
Batten FE. Three cases of myopathy, infantile type. Brain. 1903. 26:147-8.
Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov. 71(5):1033-43. [QxMD MEDLINE Link]. [Full Text].
Brockington M, Torelli S, Prandini P, et al. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet. 2005 Mar 1. 14(5):657-65. [QxMD MEDLINE Link].
Camacho Vanegas O, Bertini E, Zhang RZ, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A. 2001 Jun 19. 98(13):7516-21. [QxMD MEDLINE Link].
Center for Human and Clinical Genetics. Leiden University Medical Center. Leiden Muscular Dystrophy Pages: Duchenne and Duchenne-like muscular dystrophies. Available at: http://www.dmd.nl. [Full Text].
Currier SC, Lee CK, Chang BS, et al. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15. 133A(1):53-7. [QxMD MEDLINE Link].
D'Amico A, Haliloglu G, Richard P, et al. Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord. 2005 Aug. 15(8):521-4. [QxMD MEDLINE Link].
D'Amico A, Tessa A, Bruno C, et al. Expanding the clinical spectrum of POMT1 phenotype. Neurology. 2006 May 23. 66(10):1564-7; discussion 1461. [QxMD MEDLINE Link].
Di Blasi C, Piga D, Brioschi P, et al. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Arch Neurol. 2005 Oct. 62(10):1582-6. [QxMD MEDLINE Link].
Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med. 1973 Mar. 66(3):219-20. [QxMD MEDLINE Link].
Esapa CT, McIlhinney RA, Blake DJ. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum Mol Genet. 2005 Jan 15. 14(2):295-305. [QxMD MEDLINE Link].
Giusti B, Lucarini L, Pietroni V, et al. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol. 2005 Sep. 58(3):400-10. [QxMD MEDLINE Link].
Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet. 2001 Jun. 28(2):151-4. [QxMD MEDLINE Link].
Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology. 2005 Oct. 15(10):912-23. [QxMD MEDLINE Link].
Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta. 2005 Nov. 361(1-2):54-79. [QxMD MEDLINE Link].
Haliloglu G, Gross C, Senbil N, Talim B, Hehr U, Uyanik G. Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. Acta Myol. 2004 Dec. 23(3):137-9. [QxMD MEDLINE Link].
Hayashi YK, Chou FL, Engvall E, et al. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet. 1998 May. 19(1):94-7. [QxMD MEDLINE Link].
Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995 Oct. 11(2):216-8. [QxMD MEDLINE Link].
Henion TR, Qu Q, Smith FI. Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. 2003 Apr 10. 112(1-2):177-81. [QxMD MEDLINE Link].
Howard RA. A case of congenital defect of the muscular system (dystrophia muscularis congenita) and its association with congenital talipes equino-varus. Proc R Soc Med. 1908. 1:157-66.
Jimenez-Mallebrera C, Brown SC, Sewry CA, Muntoni F. Congenital muscular dystrophy: molecular and cellular aspects. Cell Mol Life Sci. 2005 Apr. 62(7-8):809-23. [QxMD MEDLINE Link].
Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998 Jul 23. 394(6691):388-92. [QxMD MEDLINE Link].
Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet. 2005 Sep. 42(9):673-85. [QxMD MEDLINE Link]. [Full Text].
Liu J, Ball SL, Yang Y, et al. A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). Mech Dev. 2006 Mar. 123(3):228-40. [QxMD MEDLINE Link].
Longman C, Brockington M, Torelli S, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov 1. 12(21):2853-61. [QxMD MEDLINE Link].
Martin PT. The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol. 2005 Sep. 12(3):152-8. [QxMD MEDLINE Link]. [Full Text].
Matsumoto H, Hayashi YK, Kim DS, et al. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. Neuromuscul Disord. 2005 May. 15(5):342-8. [QxMD MEDLINE Link].
Mayer U, Saher G, Fassler R, et al. Absence of integrin alpha 7 causes a novel form of muscular dystrophy. Nat Genet. 1997 Nov. 17(3):318-23. [QxMD MEDLINE Link].
Mercuri E, Topaloglu H, Brockington M, et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol. 2006 Feb. 63(2):251-7. [QxMD MEDLINE Link].
Moghadaszadeh B, Petit N, Jaillard C, et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001 Sep. 29(1):17-8. [QxMD MEDLINE Link].
Moore SA, Saito F, Chen J, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 2002 Jul 25. 418(6896):422-5. [QxMD MEDLINE Link].
Pestronk A. Washington University Neuromuscular Disease Center Web page. 1999. Available at: http://www.neuro.wustl.edu/neuromuscular. [Full Text].
Raitta C, Lamminen M, Santavuori P, Leisti J. Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. Acta Ophthalmol (Copenh). 1978 Jun. 56(3):465-72. [QxMD MEDLINE Link].
Rederstorff M, Krol A, Lescure A. Understanding the importance of selenium and selenoproteins in muscle function. Cell Mol Life Sci. 2006 Jan. 63(1):52-9. [QxMD MEDLINE Link]. [Full Text].
Santavuori P, Leisti J, Kruus S. Muscle-eye-brain disease: a new syndrome. Neuropadiatrie. 1977. 8(suppl):550.
Taniguchi K, Kobayashi K, Saito K, et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1. 12(5):527-34. [QxMD MEDLINE Link].
Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994 Apr. 317(4):351-7. [QxMD MEDLINE Link].
Tsao CY, Mendell JR. The childhood muscular dystrophies: making order out of chaos. Semin Neurol. 1999. 19(1):9-23. [QxMD MEDLINE Link].
Vainzof M, Richard P, Herrmann R, et al. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscul Disord. 2005 Oct. 15(9-10):588-94. [QxMD MEDLINE Link].
van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec. 42(12):907-12. [QxMD MEDLINE Link]. [Full Text].
van Reeuwijk J, Maugenre S, van den Elzen C, et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat. 2006 May. 27(5):453-9. [QxMD MEDLINE Link].
Voit T, Tome FS. The congenital muscular dystrophies. In: Engel AG, Franzini-Armstrong C, eds. Myology. New York: McGraw-Hill. 2004: 1203-38:
Walker AE. Lissencephaly. Arch Neurol Psychiat. 1942. 48:13-29.
Warburg M. Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling. Hum Hered. 1976. 26(2):137-48. [QxMD MEDLINE Link].
Willer T, Prados B, Falcon-Perez JM, et al. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Proc Natl Acad Sci U S A. 2004 Sep 28. 101(39):14126-31. [QxMD MEDLINE Link]. [Full Text].
Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001 Nov. 1(5):717-24. [QxMD MEDLINE Link].

Media Gallery

Dystrophin-glycoprotein complex. The complex bridges the inner cytoskeleton (F-actin) and the basal lamina. Mutations in laminin-α2, integrin α7, and O-glycosyltransferases that glycosylate alpha-dystroglycan all can cause congenital muscular dystrophy (CMD). Furthermore, mutations in collagen (not shown), which binds alpha-dystroglycan through perlecan and other proteoglycans, can cause CMD. Mutations in dystrophin, the sarcoglycans, dysferlin, and caveolin-3 can also cause muscular dystrophies. Reprinted with permission from Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. In: Neuromuscular Disorders. Vol. 15. Cohn RD. Elsevier; 2005: 207-17. 7, 20

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Author

Emad R Noor, MBChB Assistant Professor of Neurology and Clinical Neurophysiology, Hackensack Meridian School of Medicine; Attending Neurologist/Clinical Neurophysiologist, Neuroscience Institute at JFK Medical Center

Emad R Noor, MBChB is a member of the following medical societies: American Academy of Neurology, American Medical Association, Egyptian Society of Neurology, Psychiatry, and Neurosurgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock (managed by a financial services company) in healthcare companies including Allergan, Cellectar Biosciences, CVS Health, Danaher Corp, Johnson & Johnson.

Additional Contributors

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University in St Louis School of Medicine; Consulting Staff, Department of Neurology, Barnes-Jewish Hospital

Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert Stanley Rust, Jr, MD, MA Former Thomas E Worrell Jr Professor of Epileptology and Neurology, Co-Director of FE Dreifuss Child Neurology and Epilepsy Clinics, Director, Child Neurology, University of Virginia School of Medicine; Chair-Elect, Child Neurology Section, American Academy of Neurology

Robert Stanley Rust, Jr, MD, MA is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Headache Society, American Neurological Association, Child Neurology Society, International Child Neurology Association, Society for Pediatric Research

Disclosure: Nothing to disclose.