Details of Disease

Disease Name

Congenital muscular dystrophy

congenital MD; CMD; MDC

Definition

A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.

Disease Hierarchy

DIS2BIP8: Congenital nervous system disorder

DIS4550J: Muscle wasting disease

DISKY7OY: Congenital muscular dystrophy

Disease Identifiers

MONDO ID

MONDO_0019950

UMLS CUI

C0699743

MedGen ID

147063

Orphanet ID

97242

General Information of Disease (ID: DISKY7OY)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGK	TTJETQC	moderate	Genetic Variation	[1]
CHKA	TT10AWB	moderate	Altered Expression	[2]
TNNT2	TTWAS18	moderate	Biomarker	[3]
COL6A3	TT5WCAH	Strong	Genetic Variation	[4]
DAG1	TT4X7PG	Strong	Biomarker	[5]
DMD	TTWLFXU	Strong	Genetic Variation	[6]
RYR1	TTU5CIX	Strong	Genetic Variation	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKB	DEHWR6V	moderate	Genetic Variation	[8]
------------------------------------------------------------------------------------

This Disease Is Related to 31 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGA7	OTTBTAYW	Limited	Biomarker	[9]
POMK	OT36HLDO	Limited	Biomarker	[10]
DOK7	OTR2V7HO	moderate	Biomarker	[11]
DTNA	OTVBIRH2	moderate	Biomarker	[12]
EYS	OT0NBPL5	moderate	Biomarker	[13]
GOSR2	OTYHIYN2	moderate	Genetic Variation	[5]
INPP5K	OTQFLQKA	moderate	Genetic Variation	[14]
MSTO1	OT37XCNP	moderate	Genetic Variation	[15]
POMT1	OTGQSHL5	moderate	Genetic Variation	[16]
POMT2	OTO1ZQZX	moderate	Genetic Variation	[17]
PTRH2	OTBU39Q1	moderate	Altered Expression	[18]
SGCD	OTRBL3NQ	moderate	Biomarker	[19]
TRAPPC11	OTPZYXGA	moderate	Genetic Variation	[5]
ACTA1	OTOVGLPG	Strong	Genetic Variation	[20]
ANO5	OTOW8R6H	Strong	Genetic Variation	[21]
B3GALNT2	OTOF6O2B	Strong	Genetic Variation	[22]
CRPPA	OTC85K8Q	Strong	Biomarker	[23]
DPM1	OTXRRVGT	Strong	Genetic Variation	[24]
FKRP	OTMUZ7GH	Strong	Genetic Variation	[25]
FKTN	OTQ9GCXL	Strong	Genetic Variation	[26]
LAMA2	OTFROQWE	Strong	Genetic Variation	[27]
LARGE1	OTUH7H9F	Strong	Genetic Variation	[28]
LMNA	OT3SG7ZR	Strong	Biomarker	[29]
POMGNT1	OTBNOUZC	Strong	Genetic Variation	[30]
SELENON	OTSGKO5M	Strong	Genetic Variation	[31]
SYNE2	OTBUXGQ0	Strong	Biomarker	[32]
ADGRG1	OTQBB8NT	Definitive	Genetic Variation	[33]
CAPN3	OTCHG3YK	Definitive	Genetic Variation	[34]
COL6A2	OTQC6PPO	Definitive	Genetic Variation	[35]
SYNE1	OTSBSLUH	Definitive	Genetic Variation	[36]
TTN	OT0LZ058	Definitive	Biomarker	[36]
------------------------------------------------------------------------------------


⏷ Show the Full List of 31 DOT(s)

References

1	Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.J Inherit Metab Dis. 2015 Jan;38(1):99-110. doi: 10.1007/s10545-014-9759-7. Epub 2014 Sep 2.
2	Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.Hum Mol Genet. 2011 Oct 1;20(19):3841-51. doi: 10.1093/hmg/ddr305. Epub 2011 Jul 12.
3	Congenital Muscular Dystrophy 1D Causes Matrix Metalloproteinase Activation And Blood-Brain Barrier Impairment.Curr Neurovasc Res. 2017;14(1):60-64. doi: 10.2174/1567202613666161201204549.
4	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.J Neuromuscul Dis. 2016 May 27;3(2):209-225. doi: 10.3233/JND-160151.
5	TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of -dystroglycan and muscular dystrophy.Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0.
6	A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.Neuromuscul Disord. 2007 Apr;17(4):285-9. doi: 10.1016/j.nmd.2007.01.005. Epub 2007 Mar 1.
7	Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.J Neuropathol Exp Neurol. 2019 Mar 1;78(3):283-287. doi: 10.1093/jnen/nlz004.
8	Late-onset megaconial myopathy in mice lacking group I Paks.Skelet Muscle. 2019 Feb 21;9(1):5. doi: 10.1186/s13395-019-0191-4.
9	Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet. 1998 May;19(1):94-7. doi: 10.1038/ng0598-94.
10	Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.Am J Med Genet A. 2020 Mar;182(3):536-542. doi: 10.1002/ajmg.a.61453. Epub 2019 Dec 12.
11	DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.Neuromuscul Disord. 2013 Jan;23(1):36-42. doi: 10.1016/j.nmd.2012.06.355. Epub 2012 Aug 9.
12	Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.Neuromuscul Disord. 2003 Aug;13(6):456-67. doi: 10.1016/s0960-8966(03)00066-x.
13	Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.Physiol Res. 2016 Dec 13;65(6):1005-1011. doi: 10.33549/physiolres.933284. Epub 2016 Aug 19.
14	Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjgren Syndrome and Dystroglycanopathy.Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.
15	A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27.
16	Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.J Hum Genet. 2016 Aug;61(8):753-9. doi: 10.1038/jhg.2016.42. Epub 2016 May 19.
17	Novel cardiovascular findings in association with a POMT2 mutation: three siblings with -dystroglycanopathy.Eur J Hum Genet. 2014 Apr;22(4):486-91. doi: 10.1038/ejhg.2013.165. Epub 2013 Sep 4.
18	PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.Hum Mol Genet. 2017 Apr 15;26(8):1458-1464. doi: 10.1093/hmg/ddx048.
19	Recent advances in diagnosis of the childhood muscular dystrophies.J Paediatr Child Health. 1997 Jun;33(3):195-201. doi: 10.1111/j.1440-1754.1997.tb01579.x.
20	Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2015 Jun;23(6):883-6. doi: 10.1038/ejhg.2014.169. Epub 2014 Sep 3.
21	Muscular dystrophies due to glycosylation defects.Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005.
22	Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.Pediatr Radiol. 2017 Jun;47(7):884-888. doi: 10.1007/s00247-017-3821-1. Epub 2017 Mar 16.
23	ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.
24	Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013 Nov;110(3):345-351. doi: 10.1016/j.ymgme.2013.06.016. Epub 2013 Jun 28.
25	Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.Skelet Muscle. 2018 Apr 6;8(1):13. doi: 10.1186/s13395-018-0158-x.
26	Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18.
27	Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.Clin Neuropathol. 2019 May/Jun;38(3):100-108. doi: 10.5414/NP301137.
28	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. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19.
29	Lamins and bone disorders: current understanding and perspectives.Oncotarget. 2018 Apr 27;9(32):22817-22831. doi: 10.18632/oncotarget.25071. eCollection 2018 Apr 27.
30	Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.J Hum Genet. 2008;53(6):565-572. doi: 10.1007/s10038-008-0263-5. Epub 2008 Mar 11.
31	Prevalence of congenital muscular dystrophy in Italy: a population study.Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4.
32	Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Sep 15;18(18):3462-9. doi: 10.1093/hmg/ddp290. Epub 2009 Jun 19.
33	GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.J Child Neurol. 2015 Nov;30(13):1819-23. doi: 10.1177/0883073815583335. Epub 2015 Apr 28.
34	Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.Biosci Rep. 2011 Apr;31(2):125-35. doi: 10.1042/BSR20100026.
35	EMG and nerve conduction studies in children with congenital muscular dystrophy.Muscle Nerve. 2004 Feb;29(2):292-9. doi: 10.1002/mus.10544.
36	Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy.Neuromuscul Disord. 2017 Nov;27(11):1018-1022. doi: 10.1016/j.nmd.2017.06.558. Epub 2017 Jul 6.