MCID: OCL008
MIFTS: 49

Oculopharyngeal Muscular Dystrophy

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

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

MalaCards integrated aliases for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 53 12 72 23 49 24 55 71 36 28 13 14
Muscular Dystrophy, Oculopharyngeal 53 12 49 24 41 69
Opmd 53 23 49 24 55 71
Progressive Muscular Dystrophy, Oculopharyngeal Type 24
Muscular Dystrophy Oculopharyngeal 51
Oculopharyngeal Dystrophy 24

Characteristics:

Orphanet epidemiological data:

55
oculopharyngeal muscular dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: >1/1000,1-9/1000000 (United Kingdom),1-9/100000 (Europe); Age of onset: Adult,Elderly; Age of death: elderly,normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
late-adult onset (fifth to sixth decade)
autosomal recessive inheritance has been reported
carrier frequency 1:1,000 in french-canadians in quebec
carrier frequency 1:200,000 in france
carrier frequency 1:700 in bukhara jewish populations


HPO:

31
oculopharyngeal muscular dystrophy:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Decade-specific cumulative penetrance for individuals with an autosomal dominant (gcn)13 pathogenic variant [brais et al 1997]:...

Classifications:



External Ids:

OMIM 53 164300
Disease Ontology 12 DOID:11719
ICD10 32 G71.0
MeSH 41 D039141
NCIt 46 C84942
SNOMED-CT 64 77097004
Orphanet 55 ORPHA270
MESH via Orphanet 42 D039141
UMLS via Orphanet 70 C0270952
ICD10 via Orphanet 33 G71.0
MedGen 39 C0270952
KEGG 36 H00704
UMLS 69 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

NIH Rare Diseases : 49 Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by slowly progressing muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Onset is typically during adulthood, most often between 40 and 60 years of age. Symptoms may include: eyelid drooping (ptosis), arm and leg weakness, and difficulty swallowing (dysphagia). There are two types of OPMD, distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types. Both types are caused by mutations in the PABPN1 gene.Treatment depends on the signs and symptoms present in each individual. Ptosis and dysphagia can be managed with surgery; however, recurrence of symptoms commonly occurs 5-15 years after intervention. Last updated: 6/14/2016

MalaCards based summary : Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to inclusion body myositis and myopathy, and has symptoms including ophthalmoplegia, ptosis and myopathy. An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways/superpathways is mRNA surveillance pathway. The drugs Capsaicin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and testes, and related phenotypes are Increased Sindbis virus (SINV) infection and Increased Sindbis virus (SINV) infection

UniProtKB/Swiss-Prot : 71 Oculopharyngeal muscular dystrophy: A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb- muscle involvement.

Genetics Home Reference : 24 Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles.

Wikipedia : 72 Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally... more...

Description from OMIM: 164300
GeneReviews: NBK1126

Related Diseases for Oculopharyngeal Muscular Dystrophy

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



Diseases related to Oculopharyngeal Muscular Dystrophy

Symptoms & Phenotypes for Oculopharyngeal Muscular Dystrophy

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
dysarthria
dysphagia
pharyngeal muscle weakness
decreased gag reflex
proximal limb muscle weakness (occurs later)
more
Head And Neck Face:
facial muscle weakness
expressionless face

Abdomen Gastroin testinal:
dysphagia, progressive
coughing with swallowing

Head And Neck Neck:
neck muscle weakness

Head And Neck Eyes:
ptosis, progressive
extraocular movements may be mildly decreased


Clinical features from OMIM:

164300

Human phenotypes related to Oculopharyngeal Muscular Dystrophy:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000602
2 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
4 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
5 mask-like facies 55 31 occasional (7.5%) Occasional (29-5%) HP:0000298
6 ragged-red muscle fibers 55 31 hallmark (90%) Very frequent (99-80%) HP:0003200
7 spondylolisthesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003302
8 abnormality of the pharynx 55 31 hallmark (90%) Very frequent (99-80%) HP:0000600
9 rimmed vacuoles 55 31 hallmark (90%) Very frequent (99-80%) HP:0003805
10 dysarthria 31 HP:0001260
11 gait disturbance 31 HP:0001288
12 dysphagia 31 HP:0002015
13 facial palsy 31 HP:0010628
14 abnormality of muscle fibers 55 Very frequent (99-80%)
15 distal muscle weakness 31 HP:0002460
16 limb muscle weakness 31 HP:0003690
17 proximal muscle weakness 31 HP:0003701
18 neck muscle weakness 31 HP:0000467
19 progressive ptosis 31 HP:0007838

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

GenomeRNAi Phenotypes related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Sindbis virus (SINV) infection GR00310-A-1 9.02 MYH7 PABPN1 RPS27A
2 Increased Sindbis virus (SINV) infection GR00310-A-2 9.02 MYH7 PABPN1

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capsaicin Approved Early Phase 1 404-86-4 1548943
2
Ethanol Approved Early Phase 1 64-17-5 702
3 Antipruritics Early Phase 1
4 Dermatologic Agents Early Phase 1
5 Peripheral Nervous System Agents Early Phase 1
6 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Continuation Protocol to Protocol BBCO-001 Completed NCT02328482 Phase 3 Cabaletta 30gr
2 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
3 Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of Myoblasts Completed NCT00773227 Phase 2
4 Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) Patients Completed NCT02015481 Phase 2 Cabaletta
5 Dysphagia in Oculopharyngeal Muscular Dystrophy (OPMD)- Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow up Unknown status NCT01167439 Phase 1
6 Effect of Aerobic Training in Patients With Oculopharyngeal Muscular Dystrophy Unknown status NCT02158156
7 Study of Muscle Abnormalities in Patients With Specific Genetic Mutations Completed NCT00001871
8 Screening in Oculopharyngeal Muscular Dystrophy Recruiting NCT02877784 Early Phase 1 Capsaicin
9 Natural History Study of Oculopharyngeal Muscular Dystrophy Not yet recruiting NCT03161847

Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophy, oculopharyngeal

Genetic Tests for Oculopharyngeal Muscular Dystrophy

Genetic tests related to Oculopharyngeal Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy 28 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

38
Tongue, Eye, Testes, Smooth Muscle, Skeletal Muscle, Hypothalamus

Publications for Oculopharyngeal Muscular Dystrophy

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50) (show all 246)
# Title Authors Year
1
Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy. ( 29144056 )
2017
2
"Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 28472864 )
2017
3
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. ( 28361972 )
2017
4
Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature. ( 28761633 )
2017
5
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1. ( 28303574 )
2017
6
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy. ( 29102430 )
2017
7
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. ( 28590779 )
2017
8
Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. ( 28575395 )
2017
9
Optimization of genetic diagnosis of oculopharyngeal muscular dystrophy and its application in the analysis of a family pedigree from La Palma Island (Canary Islands, Spain). ( 28571954 )
2017
10
Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 27759888 )
2016
11
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. ( 28011929 )
2016
12
The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments. ( 26948710 )
2016
13
Comparison of Two Polypropylene Frontalis Suspension Techniques in 92 Patients with Oculopharyngeal Muscular Dystrophy. ( 26866330 )
2016
14
Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). ( 27980005 )
2016
15
Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. ( 27854203 )
2016
16
Orthoptic and video-oculographic analyses in oculopharyngeal muscular dystrophy. ( 25677583 )
2015
17
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2015
18
The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy. ( 26453481 )
2015
19
A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics. ( 26428746 )
2015
20
Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features. ( 25842253 )
2015
21
Progress on gene therapy, cell therapy and pharmacological strategies towards the treatment of Oculopharyngeal Muscular Dystrophy. ( 25860803 )
2015
22
An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy. ( 27858752 )
2015
23
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. ( 27858728 )
2015
24
Dropped-head in recessive oculopharyngeal muscular dystrophy. ( 26494409 )
2015
25
Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design. ( 25500011 )
2015
26
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. ( 25816335 )
2015
27
Oculopharyngeal muscular dystrophy as a rare cause of dysphagia. ( 25831437 )
2015
28
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. ( 24611576 )
2014
29
Neglected conditions: Oculopharyngeal muscular dystrophy. ( 24688066 )
2014
30
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 25155080 )
2014
31
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. ( 23831596 )
2014
32
An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy. ( 24878479 )
2014
33
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. ( 25283883 )
2014
34
Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy. ( 25321879 )
2014
35
Oculopharyngeal muscular dystrophy as a paradigm for muscle aging. ( 25426070 )
2014
36
The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry. ( 24551336 )
2013
37
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. ( 24310666 )
2013
38
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. ( 24091664 )
2013
39
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. ( 23815790 )
2013
40
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 24259282 )
2013
41
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing. ( 23848287 )
2013
42
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. ( 23453859 )
2013
43
191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. ( 23578714 )
2013
44
Improvement of freezing of gait with amantadine in a patient with oculopharyngeal muscular dystrophy and Parkinsonism. ( 23561947 )
2013
45
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? ( 24449978 )
2013
46
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients. ( 23399899 )
2013
47
Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy. ( 24050237 )
2013
48
Ocular motor deficits in oculopharyngeal muscular dystrophy. ( 22417239 )
2012
49
Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy. ( 21964252 )
2012
50
Oculopharyngeal muscular dystrophy: a case report and review of the literature. ( 21683316 )
2012

Variations for Oculopharyngeal Muscular Dystrophy

ClinVar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PABPN1 NM_004643.3(PABPN1): c.4_6GCG(6) (p.Ala2_Ala7=) NT expansion Pathogenic rs193922941 GRCh37 Chromosome 14, 23790682: 23790684
2 PABPN1 PABPN1, (GCG)n EXPANSION, (GCG)7 NT expansion Pathogenic
3 PABPN1 NM_004643.3(PABPN1): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894466 GRCh37 Chromosome 14, 23790713: 23790713

Expression for Oculopharyngeal Muscular Dystrophy

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

Pathways for Oculopharyngeal Muscular Dystrophy

Pathways related to Oculopharyngeal Muscular Dystrophy according to KEGG:

36
# Name Kegg Source Accession
1 mRNA surveillance pathway hsa03015

GO Terms for Oculopharyngeal Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.56 HNRNPA1 MYH7 MYOD1 NRL PABPN1 PYGM
2 intracellular ribonucleoprotein complex GO:0030529 9.33 HNRNPA1 PABPN1 RPS27A
3 myofibril GO:0030016 8.62 MYH7 MYOD1

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 8.96 HNRNPA1 RPS27A
2 regulation of alternative mRNA splicing, via spliceosome GO:0000381 8.62 HNRNPA1 MYOD1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.28 HNRNPA1 MYH7 MYOD1 NRL PABPN1 PCOLCE

Sources for Oculopharyngeal Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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