OPMD
MCID: OCL008
MIFTS: 52

Oculopharyngeal Muscular Dystrophy (OPMD)

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

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

MalaCards integrated aliases for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 58 12 77 25 54 26 60 76 38 30 13 6 15
Muscular Dystrophy, Oculopharyngeal 58 12 54 26 45 74
Opmd 58 25 54 26 60 76
Progressive Muscular Dystrophy, Oculopharyngeal Type 26
Dystrophy, Muscular, Oculopharyngeal 41
Dystrophy, Oculopharyngeal Muscular 26
Muscular Dystrophy Oculopharyngeal 56
Oculopharyngeal Dystrophy 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
oculopharyngeal muscular dystrophy:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Decade-specific cumulative penetrance for individuals with an autosomal dominant (gcn)13 pathogenic variant [brais et al 1997]:...

Classifications:



External Ids:

Disease Ontology 12 DOID:11719
OMIM 58 164300
KEGG 38 H00704
MeSH 45 D039141
NCIt 51 C84942
SNOMED-CT 69 77097004
ICD10 34 G71.0
MESH via Orphanet 46 D039141
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C0270952
Orphanet 60 ORPHA270
MedGen 43 C0270952
UMLS 74 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

Genetics Home Reference : 26 Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to impair vision, and in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing (dysphagia). Dysphagia begins with dry food, but over time, liquids can also become difficult to swallow. Dysphagia can cause saliva to accumulate and a wet-sounding voice. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition, choking, or a bacterial lung infection called aspiration pneumonia.

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

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 31.3 GAA HNRNPA1 MYOD1 PABPN1
2 dysphagia 11.7
3 oculopharyngodistal myopathy 11.6
4 distal myopathy with vocal cord weakness 11.3
5 swallowing disorders 11.3
6 myopathy 10.6
7 ptosis 10.5
8 inclusion body myositis 10.4
9 myositis 10.4
10 miyoshi muscular dystrophy 10.4
11 myasthenia gravis 10.3
12 aging 10.3
13 polyglucosan body myopathy 1 with or without immunodeficiency 10.3
14 neuropathy 10.3
15 myasthenia gravis congenital 10.3
16 apnea, obstructive sleep 10.1
17 neuropathy, hereditary, with liability to pressure palsies 10.1
18 myopathy, distal, with rimmed vacuoles 10.1
19 sleep apnea 10.1
20 chronic progressive external ophthalmoplegia 10.1
21 dementia 10.1
22 peripheral nervous system disease 10.1
23 muscular atrophy 10.1
24 fundus dystrophy 10.1
25 meningitis 10.1
26 arachnoid cysts 10.1
27 tuberculous meningitis 10.1
28 oral cancer 10.0
29 myopathy of extraocular muscle 10.0 MYH7 PABPN1 PCOLCE
30 glycogen storage disease vi 10.0 MYH7 PYGM
31 rigid spine muscular dystrophy 1 9.9 GAA MYH7
32 glycogen storage disease v 9.9 GAA PYGM
33 glycogen storage disease ii 9.8 GAA PYGM
34 myopathy, congenital 9.8 GAA MYH7
35 carbohydrate metabolic disorder 9.8 GAA PYGM
36 muscle tissue disease 9.8 GAA MYOD1 PABPN1
37 rhabdoid cancer 9.7 MYOD1 SMARCA4
38 muscular disease 9.6 GAA MYH7 MYOD1 PABPN1

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



Diseases related to Oculopharyngeal Muscular Dystrophy

Symptoms & Phenotypes for Oculopharyngeal Muscular Dystrophy

Human phenotypes related to Oculopharyngeal Muscular Dystrophy:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
3 rimmed vacuoles 60 33 hallmark (90%) Very frequent (99-80%) HP:0003805
4 ragged-red muscle fibers 60 33 hallmark (90%) Very frequent (99-80%) HP:0003200
5 ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000602
6 spondylolisthesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003302
7 abnormality of the pharynx 60 33 hallmark (90%) Very frequent (99-80%) HP:0000600
8 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
9 mask-like facies 60 33 occasional (7.5%) Occasional (29-5%) HP:0000298
10 dysarthria 33 HP:0001260
11 gait disturbance 33 HP:0001288
12 dysphagia 33 HP:0002015
13 facial palsy 33 HP:0010628
14 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
15 proximal muscle weakness 33 HP:0003701
16 abnormality of muscle fibers 60 Very frequent (99-80%)
17 limb muscle weakness 33 HP:0003690
18 neck muscle weakness 33 HP:0000467
19 distal muscle weakness 33 HP:0002460
20 progressive ptosis 33 HP:0007838

Symptoms via clinical synopsis from OMIM:

58
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 Gastrointestinal:
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

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

MGI Mouse Phenotypes related to Oculopharyngeal Muscular Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 GAA MYH7 MYOD1 PABPN1 PCOLCE PYGM

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
Ethanol Approved Early Phase 1 64-17-5 702
2
Capsaicin Approved Early Phase 1 404-86-4 1548943
3 Peripheral Nervous System Agents Early Phase 1
4 Antipruritics Early Phase 1
5 Dermatologic Agents Early Phase 1
6 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
2 Continuation Protocol to Protocol BBCO-001 Completed NCT02328482 Phase 3 Cabaletta 30gr
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 Not Applicable
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 Pathology Analysis of OPMD Patient Myotomies Recruiting NCT03874910
10 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 30 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

42
Eye, Tongue, Lung, Testes, Skeletal Muscle, Smooth Muscle, Hypothalamus

Publications for Oculopharyngeal Muscular Dystrophy

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50) (show all 261)
# Title Authors Year
1
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy. ( 30860873 )
2019
2
RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement. ( 30831428 )
2019
3
Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy. ( 30894671 )
2019
4
Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy. ( 30649389 )
2019
5
A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD). ( 29725764 )
2018
6
Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report. ( 30412104 )
2018
7
The need for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy. ( 30575974 )
2018
8
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. ( 30530568 )
2018
9
Oculopharyngeal Muscular Dystrophy in Singapore: Not So Rare. ( 30242302 )
2018
10
Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy. ( 30006409 )
2018
11
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1. ( 28303574 )
2017
12
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. ( 28361972 )
2017
13
"Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 28472864 )
2017
14
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy. ( 29102430 )
2017
15
Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy. ( 29144056 )
2017
16
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. ( 28590779 )
2017
17
Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. ( 28575395 )
2017
18
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
19
Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature. ( 28761633 )
2017
20
Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). ( 27980005 )
2016
21
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. ( 28011929 )
2016
22
Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 27759888 )
2016
23
The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments. ( 26948710 )
2016
24
Comparison of Two Polypropylene Frontalis Suspension Techniques in 92 Patients with Oculopharyngeal Muscular Dystrophy. ( 26866330 )
2016
25
Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. ( 27854203 )
2016
26
A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics. ( 26428746 )
2015
27
Orthoptic and video-oculographic analyses in oculopharyngeal muscular dystrophy. ( 25677583 )
2015
28
Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design. ( 25500011 )
2015
29
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. ( 25816335 )
2015
30
Progress on gene therapy, cell therapy and pharmacological strategies towards the treatment of Oculopharyngeal Muscular Dystrophy. ( 25860803 )
2015
31
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2015
32
Dropped-head in recessive oculopharyngeal muscular dystrophy. ( 26494409 )
2015
33
An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy. ( 27858752 )
2015
34
The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy. ( 26453481 )
2015
35
Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features. ( 25842253 )
2015
36
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. ( 27858728 )
2015
37
Oculopharyngeal muscular dystrophy as a rare cause of dysphagia. ( 25831437 )
2015
38
An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy. ( 24878479 )
2014
39
Neglected conditions: Oculopharyngeal muscular dystrophy. ( 24688066 )
2014
40
Oculopharyngeal muscular dystrophy as a paradigm for muscle aging. ( 25426070 )
2014
41
Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy. ( 25321879 )
2014
42
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. ( 25283883 )
2014
43
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 25155080 )
2014
44
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. ( 24611576 )
2014
45
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. ( 23831596 )
2014
46
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. ( 23815790 )
2013
47
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. ( 23453859 )
2013
48
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients. ( 23399899 )
2013
49
191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. ( 23578714 )
2013
50
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 24259282 )
2013

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 GRCh37 Chromosome 14, 23790682: 23790684
2 PABPN1 NM_004643.3(PABPN1): c.4_6GCG(6) (p.Ala2_Ala7=) NT expansion Pathogenic GRCh38 Chromosome 14, 23321473: 23321475
3 PABPN1 PABPN1, (GCG)n EXPANSION, (GCG)7 NT expansion Pathogenic
4 PABPN1 NM_004643.3(PABPN1): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894466 GRCh37 Chromosome 14, 23790713: 23790713
5 PABPN1 NM_004643.3(PABPN1): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894466 GRCh38 Chromosome 14, 23321504: 23321504

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:

38
# 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 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 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.37 HNRNPA1 MYOD1
2 cardiac muscle contraction GO:0060048 9.32 GAA MYH7
3 glycogen metabolic process GO:0005977 9.26 GAA PYGM
4 regulation of the force of heart contraction GO:0002026 9.16 GAA MYH7
5 striated muscle contraction GO:0006941 8.96 GAA MYH7
6 glycogen catabolic process GO:0005980 8.62 GAA PYGM

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.13 MYOD1 NRL SMARCA4
2 promoter-specific chromatin binding GO:1990841 8.62 MYOD1 NRL

Sources for Oculopharyngeal Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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