MCID: MSC124
MIFTS: 54

Muscular Dystrophy, Congenital

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Congenital

MalaCards integrated aliases for Muscular Dystrophy, Congenital:

Name: Muscular Dystrophy, Congenital 54 13
Congenital Muscular Dystrophy 12 23 50 24 29 14 69
Cmd 50 24
Congenital Muscular Dystrophy Due to Lmna Mutation 56
Muscular Dystrophy, Congenital, Lmna-Related 69
Lmna-Related Congenital Muscular Dystrophy 56
Muscular Dystrophy Congenital Lmna-Related 71
Congenital Md 50
L-Cmd 56
Mdcl 71
Mdc 50

Characteristics:

Orphanet epidemiological data:

56
congenital muscular dystrophy due to lmna mutation
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
prenatal onset or onset in infancy
patients who acquire ability to walk may lose it


HPO:

32
muscular dystrophy, congenital:
Onset and clinical course variable expressivity progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 613205
Disease Ontology 12 DOID:0050557
ICD9CM 35 359.0
Orphanet 56 ORPHA157973
UMLS via Orphanet 70 C2750785
ICD10 via Orphanet 34 G71.2
MedGen 40 C2750785
MeSH 42 D009136
UMLS 69 C2937300

Summaries for Muscular Dystrophy, Congenital

NIH Rare Diseases : 50 congenital muscular dystrophy (cmd) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. the severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). cmd can be caused by a variety of different genes. most forms are inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 6/22/2015

MalaCards based summary : Muscular Dystrophy, Congenital, also known as congenital muscular dystrophy, is related to muscular dystrophy, congenital, 1b and muscular dystrophy, rigid spine, 1, and has symptoms including spinal rigidity, decreased fetal movement and talipes. An important gene associated with Muscular Dystrophy, Congenital is LMNA (Lamin A/C), and among its related pathways/superpathways are Focal Adhesion and PI3K-Akt signaling pathway. The drugs Oxandrolone and Anabolic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 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.

UniProtKB/Swiss-Prot : 71 Muscular dystrophy congenital LMNA-related: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.

Wikipedia : 72 Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of... more...

Description from OMIM: 613205
GeneReviews: NBK1291

Related Diseases for Muscular Dystrophy, Congenital

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital Muscular Dystrophy, Congenital, 1b
Congenital Muscular Dystrophy Due to Lmna Mutation Lama2-Related Muscular Dystrophy
Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

Diseases related to Muscular Dystrophy, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, 1b 33.4 DAG1 FKRP FKTN LAMA2
2 muscular dystrophy, rigid spine, 1 32.6 COL6A2 FKBP14 LAMA2 MDCMP SELENON
3 muscular dystrophy-dystroglycanopathy , type b, 1 32.3 POMGNT1 POMT1
4 ullrich congenital muscular dystrophy 1 31.5 CAPN3 COL6A1 COL6A2 COL6A3 LMNA SELENON
5 muscular dystrophy-dystroglycanopathy , type b, 4 30.2 DAG1 FKRP FKTN ITGA7 LAMA2 LARGE1
6 muscular dystrophy, congenital, due to itga7 deficiency 12.2
7 muscular dystrophy, congenital, davignon-chauveau type 12.1
8 muscular dystrophy, congenital, with cataracts and intellectual disability 12.1
9 muscular dystrophy, congenital, megaconial type 12.0
10 muscular dystrophy, congenital merosin-deficient 11.9
11 muscular dystrophy, congenital, merosin-positive 11.9
12 muscular dystrophy, congenital, producing arthrogryposis 11.9
13 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.9
14 craniometaphyseal dysplasia 11.6
15 muscular dystrophy-dystroglycanopathy , type a, 4 11.1
16 fukuyama type muscular dystrophy 11.1
17 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
18 congenital muscular dystrophy type 1a 11.0
19 muscular dystrophy-dystroglycanopathy , type b, 5 10.8
20 muscular dystrophy-dystroglycanopathy , type b, 3 10.8
21 congenital muscular dystrophy due to lmna mutation 10.8
22 muscular dystrophy-dystroglycanopathy , type b, 2 10.8
23 lipodystrophy, congenital generalized, type 4 10.8
24 selenon-related multiminicore disease 10.8
25 galactorrhoea-hyperprolactinaemia 10.8 FKRP FKTN
26 proximal spinal muscular atrophy 10.8
27 multiple endocrine neoplasia 10.7 CAPN3 FKRP
28 cardiomyopathy, dilated, 1a 10.7 DAG1 LAMA2 LMNA
29 microcephaly and chorioretinopathy 1 10.7 ITGA7 LMNA SELENON
30 salih myopathy 10.7 CAPN3 FKRP
31 autosomal recessive nonsyndromic deafness 3 10.6 DAG1 FKTN LAMA2
32 arthrogryposis, distal, type 2a 10.6 COL6A1 COL6A2 LMNA
33 charcot-marie-tooth disease, type 2b2 10.6 CAPN3 FKRP LAMA2
34 peeling skin syndrome 2 10.6 CAPN3 FKRP LMNA
35 pulmonary hypertension, primary, 2 10.6 CAPN3 DAG1
36 obesity due to sim1 deficiency 10.6 FKRP FKTN POMT1
37 autosomal recessive limb-girdle muscular dystrophy type 2e 10.5 CAPN3 FKRP POMT1
38 craniofrontonasal dysplasia 10.5 FKRP FKTN LAMA2
39 cylindrical spirals myopathy 10.5 COL6A3 ITGA7 SELENON
40 muscular dystrophy 10.5
41 acetyl-coa carboxylase deficiency 10.5 CAPN3 FKRP
42 cerebellar ataxia and hypogonadotropic hypogonadism 10.5 DAG1 FKTN LAMA2 LMNA
43 neuropathy, hereditary sensory and autonomic, type viii 10.5 POMT1 POMT2
44 alzheimer disease, type 3 10.5 POMT1 POMT2
45 hirschsprung disease 5 10.5 FKRP FKTN POMT2
46 congenital hepatic fibrosis 10.5 COL6A1 COL6A2 COL6A3
47 angiodysplasia 10.5 FKTN POMGNT1 POMT1
48 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.4 CAPN3 FKRP
49 antley-bixler syndrome 10.4 DAG1 FKRP FKTN
50 cardiomyopathy, hypertrophic, 25 10.3 CAPN3 FKRP

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital:



Diseases related to Muscular Dystrophy, Congenital

Symptoms & Phenotypes for Muscular Dystrophy, Congenital

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
delayed motor development

Laboratory- Abnormalities:
increased serum creatine kinase

Head And Neck- Neck:
neck muscle weakness
floppy neck
loss of head control

Respiratory:
respiratory insufficiency due to muscle weakness

Skeletal- Limbs:
elbow laxity

Skeletal:
joint contractures

Muscle Soft Tissue:
hypotonia, severe
muscle weakness, severe, proximal and distal
generalized amyotrophy
axial weakness
head drop due to neck muscle weakness
more
Prenatal Manifestations- Movement:
decreased fetal movements

Cardiovascular- Heart:
conduction abnormalities (less common)

Skeletal- Spine:
rigid spine
stiff spine

Skeletal- Feet:
talipes foot deformities


Clinical features from OMIM:

613205

Human phenotypes related to Muscular Dystrophy, Congenital:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spinal rigidity 56 32 Frequent (79-30%) HP:0003306
2 decreased fetal movement 56 32 Occasional (29-5%) HP:0001558
3 talipes 56 32 Occasional (29-5%) HP:0001883
4 flexion contracture 56 32 Frequent (79-30%) HP:0001371
5 failure to thrive 32 HP:0001508
6 poor head control 56 Very frequent (99-80%)
7 axial muscle weakness 56 Very frequent (99-80%)
8 global developmental delay 56 Frequent (79-30%)
9 narrow chest 56 Occasional (29-5%)
10 myopathy 56 Frequent (79-30%)
11 motor delay 32 HP:0001270
12 arrhythmia 56 Occasional (29-5%)
13 congestive heart failure 56 Occasional (29-5%)
14 neck muscle weakness 32 HP:0000467
15 respiratory insufficiency due to muscle weakness 32 HP:0002747
16 generalized amyotrophy 32 HP:0003700
17 respiratory insufficiency 56 Frequent (79-30%)
18 feeding difficulties 56 Frequent (79-30%)
19 joint hyperflexibility 56 Occasional (29-5%)
20 hyperlordosis 56 Frequent (79-30%)
21 muscular hypotonia 56 Frequent (79-30%)
22 death in infancy 56 Occasional (29-5%)
23 gait disturbance 56 Frequent (79-30%)
24 cachexia 56 Occasional (29-5%)
25 congenital muscular dystrophy 32 HP:0003741
26 elevated serum creatine phosphokinase 32 HP:0003236
27 emg abnormality 56 Frequent (79-30%)
28 skeletal muscle atrophy 56 Frequent (79-30%)
29 limitation of joint mobility 56 Frequent (79-30%)
30 severe muscular hypotonia 32 HP:0006829

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 DAG1 FKRP FKTN ITGA7 LAMA2 LARGE1
2 cellular MP:0005384 9.9 COL6A3 DAG1 FKRP FKTN INPP5K ITGA7
3 growth/size/body region MP:0005378 9.77 INPP5K ITGA7 LAMA2 LARGE1 LMNA POMGNT1
4 muscle MP:0005369 9.47 CAPN3 COL6A1 COL6A3 DAG1 FKRP FKTN

Drugs & Therapeutics for Muscular Dystrophy, Congenital

Drugs for Muscular Dystrophy, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
2 Anabolic Agents Phase 1
3 Androgens Phase 1
4 Hormone Antagonists Phase 1
5 Hormones Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
7
Menthol Approved 2216-51-5 16666
8 Vaccines

Interventional clinical trials:

(show all 16)

id Name Status NCT ID Phase Drugs
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Recruiting NCT02858908 Phase 2 Tideglusib
3 Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO) Active, not recruiting NCT01805024 Phase 1 Omigapil
4 Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants Active, not recruiting NCT01048632 Phase 1 Oxandrolone
5 Flu Vaccine Study in Neuromuscular Patients 2011 Unknown status NCT01422200
6 A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy Completed NCT01836627
7 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
8 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187
9 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
10 Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy Recruiting NCT02153970
11 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
12 Clinical Trial Readiness for the Dystroglycanopathies Recruiting NCT00313677
13 Muscle Oxygenation in Effort in Neuromuscular Diseases Recruiting NCT02789059
14 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
15 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028
16 Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart Disease Withdrawn NCT01300221

Search NIH Clinical Center for Muscular Dystrophy, Congenital

Genetic Tests for Muscular Dystrophy, Congenital

Genetic tests related to Muscular Dystrophy, Congenital:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy 29 24 SELENON

Anatomical Context for Muscular Dystrophy, Congenital

MalaCards organs/tissues related to Muscular Dystrophy, Congenital:

39
Heart, Lung, Testes, Brain, Skeletal Muscle

Publications for Muscular Dystrophy, Congenital

Articles related to Muscular Dystrophy, Congenital:

id Title Authors Year
1
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. ( 14659414 )
2004

Variations for Muscular Dystrophy, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital:

71
id Symbol AA change Variation ID SNP ID
1 LMNA p.Arg50Pro VAR_009972 rs60695352
2 LMNA p.Glu358Lys VAR_009985 rs60458016
3 LMNA p.Asn39Ser VAR_063588 rs57983345
4 LMNA p.Arg249Trp VAR_063589 rs121912496
5 LMNA p.Leu302Pro VAR_063590 rs267607596
6 LMNA p.Leu380Ser VAR_063591 rs121912495
7 LMNA p.Arg453Pro VAR_063592 rs267607598
8 LMNA p.Arg455Pro VAR_063593 rs267607597
9 LMNA p.Asn456Asp VAR_063594 rs267607599

ClinVar genetic disease variations for Muscular Dystrophy, Congenital:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.428C> T (p.Ser143Phe) single nucleotide variant Pathogenic rs58912633 GRCh37 Chromosome 1, 156100479: 156100479
2 LMNA NM_170707.3(LMNA): c.1139T> C (p.Leu380Ser) single nucleotide variant Pathogenic rs121912495 GRCh37 Chromosome 1, 156105894: 156105894
3 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh37 Chromosome 1, 156104701: 156104701
4 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
5 LMNA LMNA, 3-BP DEL, 94AAG deletion Pathogenic
6 CAPN3 NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
7 LMNA NM_170707.3(LMNA): c.1381-2A> G single nucleotide variant Likely pathogenic rs267607600 GRCh37 Chromosome 1, 156106710: 156106710
8 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh37 Chromosome 1, 156104767: 156104767
9 LMNA NM_170707.3(LMNA): c.91_93delGAG (p.Glu31del) deletion Likely pathogenic rs864309525 GRCh37 Chromosome 1, 156084800: 156084802
10 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727

Expression for Muscular Dystrophy, Congenital

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital.

Pathways for Muscular Dystrophy, Congenital

GO Terms for Muscular Dystrophy, Congenital

Cellular components related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.91 FKBP14 FKRP FKTN INPP5K POMT1 POMT2
2 Golgi membrane GO:0000139 9.83 FKRP FKTN LARGE1 MGAT4C POMGNT1
3 proteinaceous extracellular matrix GO:0005578 9.76 COL6A1 COL6A2 COL6A3 LAMA2
4 endoplasmic reticulum lumen GO:0005788 9.65 COL6A1 COL6A2 COL6A3 DAG1 FKBP14
5 collagen trimer GO:0005581 9.5 COL6A1 COL6A2 COL6A3
6 dystrophin-associated glycoprotein complex GO:0016010 9.4 DAG1 FKRP
7 extracellular matrix GO:0031012 9.35 COL6A1 COL6A2 COL6A3 LAMA2 LMNA
8 collagen type VI trimer GO:0005589 9.16 COL6A1 COL6A3
9 sarcolemma GO:0042383 9.1 COL6A1 COL6A2 COL6A3 DAG1 FKRP LAMA2

Biological processes related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.96 COL6A1 COL6A2 COL6A3 ITGA7 LAMA2
2 extracellular matrix organization GO:0030198 9.8 COL6A1 COL6A2 COL6A3 DAG1 ITGA7 LAMA2
3 muscle organ development GO:0007517 9.72 CAPN3 COL6A3 FKTN ITGA7 LAMA2
4 collagen catabolic process GO:0030574 9.61 COL6A1 COL6A2 COL6A3
5 muscle cell cellular homeostasis GO:0046716 9.55 CAPN3 LARGE1
6 protein O-linked glycosylation GO:0006493 9.55 DAG1 LARGE1 POMGNT1 POMT1 POMT2
7 skeletal muscle tissue regeneration GO:0043403 9.54 DAG1 LARGE1
8 mannosylation GO:0097502 9.52 POMT1 POMT2
9 ER-associated misfolded protein catabolic process GO:0071712 9.51 POMT1 POMT2
10 protein glycosylation GO:0006486 9.5 FKRP FKTN LARGE1 MGAT4C POMGNT1 POMT1
11 protein heterotrimerization GO:0070208 9.49 COL6A1 COL6A2
12 glycoprotein biosynthetic process GO:0009101 9.48 FKRP LARGE1
13 Schwann cell differentiation GO:0014037 9.46 DAG1 LAMA2
14 regulation of myoblast differentiation GO:0045661 9.4 CAPN3 TRIP4
15 positive regulation of protein O-linked glycosylation GO:1904100 9.37 POMT1 POMT2
16 protein O-linked mannosylation GO:0035269 9.02 FKRP FKTN LARGE1 POMT1 POMT2

Molecular functions related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 acetylglucosaminyltransferase activity GO:0008375 9.16 LARGE1 POMGNT1
2 transferase activity, transferring glycosyl groups GO:0016757 9.02 LARGE1 MGAT4C POMGNT1 POMT1 POMT2
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT1 POMT2

Sources for Muscular Dystrophy, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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