MCID: OCL008
MIFTS: 52

Oculopharyngeal Muscular Dystrophy

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

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

MalaCards integrated aliases for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 57 12 76 24 53 25 59 75 37 29 13 6 15
Muscular Dystrophy, Oculopharyngeal 57 12 53 25 44 73
Opmd 57 24 53 25 59 75
Progressive Muscular Dystrophy, Oculopharyngeal Type 25
Dystrophy, Muscular, Oculopharyngeal 40
Dystrophy, Oculopharyngeal Muscular 25
Muscular Dystrophy Oculopharyngeal 55
Oculopharyngeal Dystrophy 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
oculopharyngeal muscular dystrophy:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Decade-specific cumulative penetrance for individuals with an autosomal dominant (gcn)13 pathogenic variant [brais et al 1997]:...

Classifications:



External Ids:

OMIM 57 164300
Disease Ontology 12 DOID:11719
ICD10 33 G71.0
MeSH 44 D039141
NCIt 50 C84942
SNOMED-CT 68 77097004
Orphanet 59 ORPHA270
ICD10 via Orphanet 34 G71.0
MESH via Orphanet 45 D039141
UMLS via Orphanet 74 C0270952
MedGen 42 C0270952
KEGG 37 H00704
UMLS 73 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

Genetics Home Reference : 25 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 myopathy 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 Capsaicin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and tongue, and related phenotypes are ptosis and myopathy

NIH Rare Diseases : 53 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 : 75 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 : 76 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 41)
# Related Disease Score Top Affiliating Genes
1 myopathy 26.8 GAA HNRNPA1 MYH7 MYOD1 PABPN1 PYGM
2 dysphagia 11.5
3 oculopharyngodistal myopathy 11.5
4 muscular dystrophy 11.2
5 swallowing disorders 11.1
6 ptosis 10.3
7 esophagitis 10.3
8 inclusion body myositis 10.3
9 myositis 10.3
10 distal muscular dystrophy 10.2
11 pharyngitis 10.2
12 bone fracture 10.2 MYH7 PCOLCE
13 myasthenia gravis 10.1
14 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
15 neuropathy 10.1
16 myasthenia gravis congenital 10.1
17 apnea, obstructive sleep 10.0
18 neuropathy, hereditary, with liability to pressure palsies 10.0
19 aging 10.0
20 sleep apnea 10.0
21 arachnoiditis 10.0
22 chronic progressive external ophthalmoplegia 10.0
23 dementia 10.0
24 retinitis 10.0
25 peripheral nervous system disease 10.0
26 muscular atrophy 10.0
27 neuronitis 10.0
28 fundus dystrophy 10.0
29 meningitis 10.0
30 arachnoid cysts 10.0
31 hereditary neuropathy with liability to pressure palsy 10.0
32 tuberculous meningitis 10.0
33 hereditary neuropathies 10.0
34 myopathy of extraocular muscle 9.9 MYH7 PABPN1 PCOLCE
35 rigid spine muscular dystrophy 1 9.9 GAA MYH7
36 glycogen storage disease vi 9.8 MYH7 PYGM
37 muscle tissue disease 9.7 MYOD1 PABPN1
38 neuromuscular disease 9.6 GAA PABPN1
39 glycogen storage disease v 9.6 GAA PYGM
40 glycogen storage disease ii 9.5 GAA PYGM
41 carbohydrate metabolic disorder 9.4 GAA PYGM

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:

57
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

Human phenotypes related to Oculopharyngeal Muscular Dystrophy:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
3 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
4 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
5 ragged-red muscle fibers 59 32 hallmark (90%) Very frequent (99-80%) HP:0003200
6 spondylolisthesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003302
7 abnormality of the pharynx 59 32 hallmark (90%) Very frequent (99-80%) HP:0000600
8 ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000602
9 rimmed vacuoles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003805
10 dysarthria 32 HP:0001260
11 gait disturbance 32 HP:0001288
12 dysphagia 32 HP:0002015
13 facial palsy 32 HP:0010628
14 abnormality of muscle fibers 59 Very frequent (99-80%)
15 neck muscle weakness 32 HP:0000467
16 distal muscle weakness 32 HP:0002460
17 limb muscle weakness 32 HP:0003690
18 proximal muscle weakness 32 HP:0003701
19 progressive ptosis 32 HP:0007838

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

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

26
# 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

MGI Mouse Phenotypes related to Oculopharyngeal Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 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
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 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 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 29 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

41
Eye, Lung, Tongue, Testes, Skeletal Muscle, Smooth Muscle, Hypothalamus

Publications for Oculopharyngeal Muscular Dystrophy

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50) (show all 249)
# Title Authors Year
1
A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD). ( 29725764 )
2018
2
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1. ( 28303574 )
2017
3
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. ( 28361972 )
2017
4
"Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 28472864 )
2017
5
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy. ( 29102430 )
2017
6
Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy. ( 29144056 )
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
Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature. ( 28761633 )
2017
11
Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). ( 27980005 )
2016
12
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. ( 28011929 )
2016
13
Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 27759888 )
2016
14
The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments. ( 26948710 )
2016
15
Comparison of Two Polypropylene Frontalis Suspension Techniques in 92 Patients with Oculopharyngeal Muscular Dystrophy. ( 26866330 )
2016
16
Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. ( 27854203 )
2016
17
A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics. ( 26428746 )
2015
18
Orthoptic and video-oculographic analyses in oculopharyngeal muscular dystrophy. ( 25677583 )
2015
19
Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design. ( 25500011 )
2015
20
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. ( 25816335 )
2015
21
Progress on gene therapy, cell therapy and pharmacological strategies towards the treatment of Oculopharyngeal Muscular Dystrophy. ( 25860803 )
2015
22
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2015
23
Dropped-head in recessive oculopharyngeal muscular dystrophy. ( 26494409 )
2015
24
An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy. ( 27858752 )
2015
25
The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy. ( 26453481 )
2015
26
Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features. ( 25842253 )
2015
27
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. ( 27858728 )
2015
28
Oculopharyngeal muscular dystrophy as a rare cause of dysphagia. ( 25831437 )
2015
29
An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy. ( 24878479 )
2014
30
Neglected conditions: Oculopharyngeal muscular dystrophy. ( 24688066 )
2014
31
Oculopharyngeal muscular dystrophy as a paradigm for muscle aging. ( 25426070 )
2014
32
Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy. ( 25321879 )
2014
33
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. ( 25283883 )
2014
34
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 25155080 )
2014
35
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. ( 24611576 )
2014
36
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. ( 23831596 )
2014
37
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. ( 23815790 )
2013
38
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. ( 23453859 )
2013
39
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients. ( 23399899 )
2013
40
191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. ( 23578714 )
2013
41
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 24259282 )
2013
42
Improvement of freezing of gait with amantadine in a patient with oculopharyngeal muscular dystrophy and Parkinsonism. ( 23561947 )
2013
43
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. ( 24091664 )
2013
44
Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy. ( 24050237 )
2013
45
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? ( 24449978 )
2013
46
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. ( 24310666 )
2013
47
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
48
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing. ( 23848287 )
2013
49
Ocular motor deficits in oculopharyngeal muscular dystrophy. ( 22417239 )
2012
50
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy. ( 21956377 )
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 NM_004643.3(PABPN1): c.4_6GCG(6) (p.Ala2_Ala7=) NT expansion Pathogenic rs193922941 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:

37
# 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 ribonucleoprotein complex GO:1990904 8.96 HNRNPA1 PABPN1
2 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 9.4 HNRNPA1 RPS27A
2 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.37 HNRNPA1 MYOD1
3 cardiac muscle contraction GO:0060048 9.32 GAA MYH7
4 glycogen metabolic process GO:0005977 9.26 GAA PYGM
5 striated muscle contraction GO:0006941 9.16 GAA MYH7
6 glycogen catabolic process GO:0005980 8.96 GAA PYGM
7 regulation of the force of heart contraction GO:0002026 8.62 GAA MYH7

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

# Name GO ID Score Top Affiliating Genes
1 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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