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Congenital muscular dystrophy without intellectual disability

MedGen UID:
1681503
•Concept ID:
C5190847
•
Disease or Syndrome
Synonyms: CMD without intellectual disability; CMD-no MR; congenital muscular dystrophy without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability; congenital muscular dystrophy-dystroglycanopathy without intellectual disability
SNOMED CT: Congenital muscular dystrophy without intellectual disability (783175003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:1040033
Orphanet: ORPHA370980

Definition

A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital muscular dystrophy without intellectual disability

Professional guidelines

PubMed

Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Ombrone D, Giocaliere E, Forni G, Malvagia S, la Marca G
Mass Spectrom Rev 2016 Jan-Feb;35(1):71-84. Epub 2015 May 7 doi: 10.1002/mas.21463. PMID: 25952022
Neonatal biochemical screening for disease.
Clague A, Thomas A
Clin Chim Acta 2002 Jan;315(1-2):99-110. doi: 10.1016/s0009-8981(01)00716-1. PMID: 11728413
Prenatal influences and prenatal diagnosis.
Smithells RW, Speidel BD
Br Med J 1971 Oct 9;4(5779):105-8. doi: 10.1136/bmj.4.5779.105. PMID: 4255486Free PMC Article

Recent clinical studies

Etiology

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Camelo CG, Artilheiro MC, Martins Moreno CA, Ferraciolli SF, Serafim Silva AM, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E
J Neuromuscul Dis 2023;10(4):483-492. doi: 10.3233/JND-221638. PMID: 37182895Free PMC Article
Intellectual disability in paediatric patients with genetic muscle diseases.
Specht S, Straub V
Neuromuscul Disord 2021 Oct;31(10):988-997. doi: 10.1016/j.nmd.2021.08.012. PMID: 34736636
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F
Am J Med Genet A 2021 Jun;185(6):1649-1665. Epub 2021 Mar 30 doi: 10.1002/ajmg.a.62124. PMID: 33783954Free PMC Article
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M, Polavarapu K, Bevinahalli NN, Veeramani PK, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Atchayaram N
J Hum Genet 2021 Aug;66(8):813-823. Epub 2021 Mar 12 doi: 10.1038/s10038-021-00913-1. PMID: 33712684
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H
Clin Genet 2021 Mar;99(3):384-395. Epub 2021 Jan 19 doi: 10.1111/cge.13886. PMID: 33200426

Diagnosis

Intellectual disability in paediatric patients with genetic muscle diseases.
Specht S, Straub V
Neuromuscul Disord 2021 Oct;31(10):988-997. doi: 10.1016/j.nmd.2021.08.012. PMID: 34736636
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F
Am J Med Genet A 2021 Jun;185(6):1649-1665. Epub 2021 Mar 30 doi: 10.1002/ajmg.a.62124. PMID: 33783954Free PMC Article
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H
Clin Genet 2021 Mar;99(3):384-395. Epub 2021 Jan 19 doi: 10.1111/cge.13886. PMID: 33200426
Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
Hu P, Yuan L, Deng H
Mutat Res Rev Mutat Res 2018 Oct-Dec;778:45-50. Epub 2018 Sep 12 doi: 10.1016/j.mrrev.2018.09.002. PMID: 30454682
Neonatal biochemical screening for disease.
Clague A, Thomas A
Clin Chim Acta 2002 Jan;315(1-2):99-110. doi: 10.1016/s0009-8981(01)00716-1. PMID: 11728413

Therapy

LAMA2-related congenital muscular dystrophy complicated by West syndrome.
Camacho A, Núñez N, Dekomien G, Hernández-Laín A, de Aragón AM, Simón R
Eur J Paediatr Neurol 2015 Mar;19(2):243-7. Epub 2014 Dec 2 doi: 10.1016/j.ejpn.2014.11.005. PMID: 25500573
Challenges to congenital genetic disorders with "RNA-targeting" chemical compounds.
Ogawa Y, Hagiwara M
Pharmacol Ther 2012 Jun;134(3):298-305. Epub 2012 Feb 9 doi: 10.1016/j.pharmthera.2012.02.001. PMID: 22342810
Continuous infusion propofol general anesthesia for dental treatment in patients with progressive muscular dystrophy.
Kawaai H, Tanaka K, Yamazaki S
Anesth Prog 2005 Spring;52(1):12-6. doi: 10.2344/0003-3006(2005)52[12:CIPGAF]2.0.CO;2. PMID: 15859443Free PMC Article
Congenital, genetic, and endocrinologic influences on dental occlusion.
Cohen MM
Dent Clin North Am 1975 Jul;19(3):499-514. PMID: 124276

Prognosis

Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study.
Lindeblad G, Kroksmark AK, Ekström AB
Dev Med Child Neurol 2019 Oct;61(10):1214-1220. Epub 2019 Jan 31 doi: 10.1111/dmcn.14161. PMID: 30706460
Expanding the phenotype of GMPPB mutations.
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG
Brain 2015 Apr;138(Pt 4):836-44. Epub 2015 Feb 12 doi: 10.1093/brain/awv013. PMID: 25681410
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E
Eur J Hum Genet 2012 Dec;20(12):1234-9. Epub 2012 May 2 doi: 10.1038/ejhg.2012.71. PMID: 22549409Free PMC Article
Neonatal biochemical screening for disease.
Clague A, Thomas A
Clin Chim Acta 2002 Jan;315(1-2):99-110. doi: 10.1016/s0009-8981(01)00716-1. PMID: 11728413
CNS in congenital muscular dystrophy without mental retardation.
Pihko H, Louhimo T, Valanne L, Donner M
Neuropediatrics 1992 Jun;23(3):116-22. doi: 10.1055/s-2008-1071325. PMID: 1641078

Clinical prediction guides

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Camelo CG, Artilheiro MC, Martins Moreno CA, Ferraciolli SF, Serafim Silva AM, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E
J Neuromuscul Dis 2023;10(4):483-492. doi: 10.3233/JND-221638. PMID: 37182895Free PMC Article
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F
Am J Med Genet A 2021 Jun;185(6):1649-1665. Epub 2021 Mar 30 doi: 10.1002/ajmg.a.62124. PMID: 33783954Free PMC Article
Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study.
Lindeblad G, Kroksmark AK, Ekström AB
Dev Med Child Neurol 2019 Oct;61(10):1214-1220. Epub 2019 Jan 31 doi: 10.1111/dmcn.14161. PMID: 30706460
Neonatal biochemical screening for disease.
Clague A, Thomas A
Clin Chim Acta 2002 Jan;315(1-2):99-110. doi: 10.1016/s0009-8981(01)00716-1. PMID: 11728413
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.
Yoshioka M, Kuroki S
Am J Med Genet 1994 Nov 15;53(3):245-50. doi: 10.1002/ajmg.1320530309. PMID: 7856660

Recent systematic reviews

Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis.
Pascual-Morena C, Cavero-Redondo I, Saz-Lara A, Martínez-García I, Visier-Alfonso ME, Martínez-Vizcaíno V
Pediatr Neurol 2024 Dec;161:9-17. Epub 2024 Aug 9 doi: 10.1016/j.pediatrneurol.2024.08.002. PMID: 39232462

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