MCID: PRG106
MIFTS: 34

Progressive Muscular Dystrophy

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

Aliases & Classifications for Progressive Muscular Dystrophy

MalaCards integrated aliases for Progressive Muscular Dystrophy:

Name: Progressive Muscular Dystrophy 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G71.0
Orphanet 59 ORPHA206644

Summaries for Progressive Muscular Dystrophy

MalaCards based summary : Progressive Muscular Dystrophy is related to muscular dystrophy and muscular dystrophy, becker type. An important gene associated with Progressive Muscular Dystrophy is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Effects of Nitric Oxide. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Progressive Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Type 1a Progressive Muscular Dystrophy

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

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 32.1 SGCA FHL1 DMD
2 muscular dystrophy, becker type 30.3 SGCA NOS1 DMD
3 muscular dystrophy, congenital merosin-deficient, 1a 30.2 SGCA DMD
4 myositis 30.1 MB DMD
5 muscular disease 30.1 SGCA MB DMD
6 dilated cardiomyopathy 28.7 SGCA NPPA MB DMD
7 facioscapulohumeral muscular dystrophy 1 11.6
8 epidermolysis bullosa simplex with muscular dystrophy 11.6
9 oculopharyngeal muscular dystrophy 11.3
10 myopathy, x-linked, with postural muscle atrophy 11.3
11 fukuyama type muscular dystrophy 11.1
12 myopathy 10.7
13 muscular dystrophy, duchenne type 10.7
14 neuromuscular disease 10.5
15 limb-girdle muscular dystrophy 10.4
16 muscular atrophy 10.4
17 aminoaciduria 10.4
18 reducing body myopathy 10.3 FHL1 DMD
19 muscular dystrophy, congenital, lmna-related 10.3
20 atrial standstill 1 10.3
21 autosomal recessive limb-girdle muscular dystrophy 10.3 SGCA DMD
22 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 SGCA DMD
23 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 SGCA DMD
24 spinal muscular atrophy 10.3
25 cardiomyopathy, dilated, 3b 10.3 SGCA DMD
26 orthostatic intolerance 10.3
27 polymyositis 10.3
28 mcleod syndrome 10.3 SGCA DMD
29 respiratory failure 10.2
30 myotonia 10.2
31 creatine phosphokinase, elevated serum 10.2 MB DMD
32 scoliosis 10.2
33 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 SGCA DMD
34 gas gangrene 10.2 MB DMD
35 pulmonary hypertension 10.2
36 atrioventricular block 10.2
37 miyoshi muscular dystrophy 10.2
38 myocardial infarction 10.2
39 myasthenia gravis 10.2
40 miyoshi muscular dystrophy 1 10.2
41 congestive heart failure 10.2
42 myotonic dystrophy 10.2
43 myotonia atrophica 10.2
44 cardiac arrest 10.1
45 muscular dystrophy, limb-girdle, autosomal recessive 2 10.1
46 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
47 gastric dilatation 10.1
48 poliomyelitis 10.1
49 malignant hyperthermia 10.1
50 dysphagia 10.1

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



Diseases related to Progressive Muscular Dystrophy

Symptoms & Phenotypes for Progressive Muscular Dystrophy

MGI Mouse Phenotypes related to Progressive Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 CCN2 DMD FHL1 MB MTAP NOS1
2 homeostasis/metabolism MP:0005376 9.8 CCN2 DMD FHL1 MB NOS1 NPPA
3 liver/biliary system MP:0005370 9.46 CCN2 DMD MTAP NOS1
4 muscle MP:0005369 9.43 DMD FHL1 MB NOS1 NPPA SGCA
5 respiratory system MP:0005388 9.02 CCN2 DMD MB MTAP NOS1

Drugs & Therapeutics for Progressive Muscular Dystrophy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved 329-65-7 838
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/II Study of Stem Cell Therapy in Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
2 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
3 Self-management Training for Parents With Chronic Muscular Dystrophia Withdrawn NCT02641275

Search NIH Clinical Center for Progressive Muscular Dystrophy

Genetic Tests for Progressive Muscular Dystrophy

Anatomical Context for Progressive Muscular Dystrophy

MalaCards organs/tissues related to Progressive Muscular Dystrophy:

41
Heart, Skeletal Muscle, Testes, Liver, Brain, Bone, Eye

Publications for Progressive Muscular Dystrophy

Articles related to Progressive Muscular Dystrophy:

(show top 50) (show all 1350)
# Title Authors PMID Year
1
Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims. 38
31399066 2019
2
Proteomic identification of elevated saliva kallikrein levels in the mdx-4cv mouse model of Duchenne muscular dystrophy. 38
31193643 2019
3
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 38
31071488 2019
4
[Morphological characteristics of paravertebral muscles in patients with scoliosis caused by primaryprogressive muscular dystrophies]. 38
31317930 2019
5
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report. 38
30126629 2018
6
Human Adipose-Derived CD146+ Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells. 38
30059260 2018
7
A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy. 38
29799141 2018
8
Effects of Ovariectomy in an hSOD1-G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis (ALS). 38
29394243 2018
9
Treatment with the anti-IL-6 receptor antibody attenuates muscular dystrophy via promoting skeletal muscle regeneration in dystrophin-/utrophin-deficient mice. 38
29078808 2017
10
A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient. 38
28937030 2017
11
γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort. 38
27759885 2017
12
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties. 38
28214267 2017
13
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. 38
27872178 2017
14
Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature. 38
28634560 2017
15
Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage. 38
26860865 2016
16
A Case Report of an Infant with Robertsonian Translocation (15;22)(q10;q10) and Literature Review. 38
26927352 2016
17
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies. 38
27747217 2016
18
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). 38
27195159 2016
19
Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? 38
27467128 2016
20
[Diagnosis and natural history of Duchenne muscular dystrophy]. 38
26773582 2015
21
Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle. 38
26019234 2015
22
[Glucocorticoid therapy of progressive muscular dystrophy: the current state and progress]. 38
26310562 2015
23
Determining the mechanical properties of plectin in mouse myoblasts and keratinocytes. 38
25447312 2015
24
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. 38
25821721 2015
25
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. 38
26347253 2015
26
Pregnancy and delivery in Leyden-Möbius muscular dystrophy. Case Report. 38
26313391 2015
27
Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf (tm1Kcam). 38
26464793 2015
28
Chaperoning heat shock proteins: proteomic analysis and relevance for normal and dystrophin-deficient muscle. 38
24895218 2014
29
Histological comparison of the smooth uterine muscle of healthy golden retriever bitches, carriers of the progressive muscular dystrophy (GRMD) gene, and GRMD-affected bitches. 38
25200710 2014
30
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. 38
24234655 2014
31
Progressive muscular dystrophy of heart: diagnosis easily missed by clinicians. 38
24585649 2014
32
50 years ago in the Journal of Pediatrics: the use of serum creatine phosphokinase and other serum enzymes in the diagnosis of progressive muscular dystrophy. 38
24274203 2013
33
[Muscle biopsy in children: Usefulness in 2012]. 38
23993361 2013
34
Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing. 38
23588064 2013
35
[Clinical and pathological features in children with progressive muscular dystrophy]. 38
23965878 2013
36
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. 38
23593020 2013
37
The C2A domain in dysferlin is important for association with MG53 (TRIM72). 38
23145354 2012
38
Muscle MRI findings in limb girdle muscular dystrophy type 2L. 38
22980763 2012
39
[Soccer as a good thing: 15-year-old Jonas organizes a soccer tournament despite progressive muscular dystrophy]. 38
22876467 2012
40
High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease. 38
21704464 2012
41
Angioedema in progressive muscular dystrophy: a case report. 38
22908833 2012
42
Exploration of lipid metabolism in relation with plasma membrane properties of Duchenne muscular dystrophy cells: influence of L-carnitine. 38
23209572 2012
43
[Clinical points for progressive muscular dystrophy - is immobobilization the only concern?]. 38
23196447 2012
44
Profiling of age-related changes in the tibialis anterior muscle proteome of the mdx mouse model of dystrophinopathy. 38
23093855 2012
45
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy. 38
22077867 2011
46
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 38
21890494 2011
47
Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies. 38
22146674 2011
48
Alpha sarcoglycan is required for FGF-dependent myogenic progenitor cell proliferation in vitro and in vivo. 38
21903674 2011
49
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. 38
21412170 2011
50
Rhabdomyosarcomas in aging A/J mice. 38
21853140 2011

Variations for Progressive Muscular Dystrophy

Expression for Progressive Muscular Dystrophy

Search GEO for disease gene expression data for Progressive Muscular Dystrophy.

Pathways for Progressive Muscular Dystrophy

Pathways related to Progressive Muscular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.23 NOS1 DMD
2 9.53 NOS1 MB

GO Terms for Progressive Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.46 NPPA NOS1 DMD CCN2
2 membrane raft GO:0045121 9.43 SGCA NOS1 DMD
3 dystrophin-associated glycoprotein complex GO:0016010 8.96 SGCA DMD
4 sarcolemma GO:0042383 8.8 SGCA NOS1 DMD

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.58 NPPA NOS1 MB
2 response to hormone GO:0009725 9.48 NOS1 MB
3 regulation of cardiac conduction GO:1903779 9.46 NPPA NOS1
4 skeletal muscle tissue regeneration GO:0043403 9.43 SGCA DMD
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.37 NOS1 DMD
6 response to muscle stretch GO:0035994 9.32 NPPA DMD
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 SGCA DMD
8 positive regulation of cardiac muscle contraction GO:0060452 9.16 NPPA CCN2
9 muscle organ development GO:0007517 9.13 SGCA FHL1 DMD
10 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 8.62 NPPA NOS1

Sources for Progressive Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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