Oculopharyngeal Muscular Dystrophy

An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.

Also Known As:

Muscular Dystrophy, Oculopharyngeal; Oculopharyngeal Dystrophy; Progressive Muscular Dystrophy, Oculopharyngeal Type; Dystrophies, Oculopharyngeal Muscular; Dystrophy, Oculopharyngeal Muscular; Muscular Dystrophies, Oculopharyngeal; Oculopharyngeal Muscular Dystrophies

Networked: 185 relevant articles (1 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Facial Pain (Myofacial Pain)
2.	Muscular Diseases (Myopathy)
3.	Inclusion Body Myositis
4.	Muscular Dystrophies (Muscular Dystrophy)
5.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)

Experts

1.	Brais, Bernard: 13 articles (01/2018 - 08/2003)
2.	Rouleau, Guy A: 12 articles (04/2019 - 08/2003)
3.	Trollet, Capucine: 11 articles (01/2022 - 04/2011)
4.	Dickson, George: 10 articles (06/2021 - 04/2011)
5.	Raz, Vered: 10 articles (08/2020 - 04/2011)
6.	Rubinsztein, David C: 9 articles (03/2011 - 04/2002)
7.	van der Maarel, Silvère M: 8 articles (04/2014 - 01/2006)
8.	Butler-Browne, Gillian: 7 articles (01/2022 - 11/2006)
9.	Mouly, Vincent: 7 articles (01/2022 - 11/2006)
10.	Corbett, Anita H: 7 articles (01/2019 - 03/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oculopharyngeal Muscular Dystrophy:

1.	Poly(A)-Binding Protein IIIBA 06/01/2004 - "[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]." 01/01/2017 - "Oculopharyngeal muscular dystrophy (OPMD) is linked to mutations in the gene encoding poly(A)-binding protein nuclear 1 (PABPN1). " 01/01/2017 - "Mutations in the gene encoding poly(A)-binding protein nuclear 1 (PABPN1) result in oculopharyngeal muscular dystrophy (OPMD). " 03/01/2013 - "Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant inherited dystrophy caused by an abnormal trinucleotide repeat expansion in the poly(A)-binding-protein-nuclear 1 (PABPN1) gene. " 07/01/2011 - "This observation may be relevant to our understanding of why the phenotypes associated with human PABP2 mutation in oculopharyngeal muscular dystrophy (OPMD) seem to selectively affect only muscle cells."
2.	Poly(A)-Binding Proteins (Poly(A)-Binding Protein)IBA 11/01/2006 - "Cultures of myoblasts isolated from cricopharyngeal muscles from patients with oculopharyngeal muscular dystrophy (OPMD) have been performed to study the effect of the expanded (GCG)8-13 repeat, located on the poly(A) binding protein nuclear-1 (PABPN1), on satellite cell phenotype. " 06/01/2013 - "Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). " 05/01/2005 - "Intranuclear inclusions constitute a pathological hallmark of oculopharyngeal muscular dystrophy (OPMD), a dominantly inherited disease caused by (GCG) repeat expansions in the gene that encodes for nuclear poly(A) binding protein (PABPN1). " 09/01/2003 - "We reported a 52-year-old woman with oculopharyngeal muscular dystrophy (OPMD) harboring expanded (GCG) 13 mutation of the poly (A) binding protein 2 gene. " 05/15/2001 - "The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression."
3.	Proteins (Proteins, Gene)FDA Link 10/01/2011 - "Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein." 05/01/2002 - "Protein conformational disorders (PCDs), such as Alzheimer's disease, Huntington's disease (HD), Parkinson's disease and oculopharyngeal muscular dystrophy, are associated with proteins that misfold and aggregate. " 04/01/2001 - "However, it is now apparent that others are due to defects in a wide range of proteins including those which are either nuclear-related (Emery-Dreifuss type muscular dystrophies, oculopharyngeal muscular dystrophy), enzymatic (limb-girdle muscular dystrophy 2A, myotonic dystrophy) or sarcomeric (limb-girdle muscular dystrophies 1A and 2G). " 01/01/2018 - "Mutations in the PABPN1 gene expanding an N-terminal alanine tract in the PABPN1 protein from 10 alanines to 11-18 alanines cause the muscle-specific disease oculopharyngeal muscular dystrophy (OPMD), which affects eyelid, pharynx, and proximal limb muscles. " 09/14/2010 - "When expressed in a human cell line, anhydrin localizes to the nucleus and reduces the propensity of a polyalanine expansion protein associated with oculopharyngeal muscular dystrophy to form aggregates. "
4.	Alanine (L-Alanine)FDA Link 10/20/2015 - "An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy." 01/01/2023 - "Oculopharyngeal muscular dystrophy (OPMD) is caused by the expansion of the first 10 alanine stretches. " 07/01/2015 - "Interestingly, an N-terminal alanine expansion in PABPN1 that is thought to cause oculopharyngeal muscular dystrophy cannot completely rescue the effects of PABPN1 depletion, suggesting that this pathway may have relevance to disease. " 07/01/2014 - "An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy." 10/01/2012 - "An alanine repeat expansion in PABPN1 (exp-PABPN1) causes oculopharyngeal muscular dystrophy (OPMD). "
5.	UbiquitinIBA 09/02/1991 - "In 10/10 inclusion body myositis (IBM) patients and 2/2 oculopharyngeal muscular dystrophy (OPMD) patients, vacuolated muscle fibers contained darkly stained ubiquitin (Ub)-immunoreactive cytoplasmic inclusions. " 09/02/1991 - "Immunolocalization of ubiquitin in muscle biopsies of patients with inclusion body myositis and oculopharyngeal muscular dystrophy." 07/01/1993 - "Ubiquitin and beta-amyloid-protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: an immunocytochemical study." 01/01/2022 - "Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy." 07/01/1993 - "We used immunocytochemistry to identify ubiquitin and beta-amyloid-protein in muscle biopsies from patients with three neuromuscular disorders characterized by the presence of rimmed vacuoles in muscle fibres: inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy (OPMD). "
6.	Biomarkers (Surrogate Marker)IBA 11/01/2023 - "Emerging and established biomarkers of oculopharyngeal muscular dystrophy." 01/01/2023 - "Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)." 10/01/2022 - "Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy." 06/19/2023 - "Novel Metabolomic Approach for Identifying Pathology-Specific Biomarkers in Rare Diseases: A Case Study in Oculopharyngeal Muscular Dystrophy (OPMD)." 08/22/2020 - "Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy."
7.	MicroRNAs (MicroRNA)IBA 01/01/2019 - "Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy." 01/01/2019 - "Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy." 08/22/2020 - "Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy." 08/22/2020 - "This is the first study reporting miRNA as potential biomarkers for oculopharyngeal muscular dystrophy (OPMD), an adult-onset myopathy. "
8.	Amyloid beta-PeptidesIBA 07/01/1993 - "Ubiquitin and beta-amyloid-protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: an immunocytochemical study." 07/01/1993 - "We used immunocytochemistry to identify ubiquitin and beta-amyloid-protein in muscle biopsies from patients with three neuromuscular disorders characterized by the presence of rimmed vacuoles in muscle fibres: inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy (OPMD). " 02/19/1993 - "We examined rimmed vacuoles immunohistochemically in 12 patients with inclusion body myositis and two patients with oculopharyngeal muscular dystrophy with antibodies to beta-amyloid precursor protein and cathepsin B and D. "
9.	Creatine Kinase (Creatine Phosphokinase)IBA 08/02/1979 - "Creatine phosphokinase MB band in oculopharyngeal muscular dystrophy." 06/01/2006 - "To exclude myasthenia gravis, ocular myositis, thyroid associated orbitopathy, oculopharyngeal muscular dystrophy, and congenital fibrosis of the extraocular muscles in patients with an early onset or long-lasting very slowly progressive ptosis and external ophthalmoplegia, almost without any diplopia, and normal to mildly elevated serum creatine kinase and lactate, electromyography, nerve conduction studies and MRI of the orbits should be performed. "
10.	CollagenIBA 06/01/2006 - "Recent studies have confirmed this possibility by showing that pathology in mouse models of amyotrophic lateral sclerosis, congenital muscular dystrophy, oculopharyngeal muscular dystrophy and collagen-VI deficiency, but not Duchenne muscular dystrophy, is significantly ameliorated by genetic or pharmacological interventions that have been designed to inhibit apoptosis. " 01/01/2020 - "Inhibition of Myostatin Reduces Collagen Deposition in a Mouse Model of Oculopharyngeal Muscular Dystrophy (OPMD) With Established Disease."

Therapies and Procedures

1.	Rhytidoplasty (Facelift) 01/01/2007 - "The authors present a patient with oculopharyngeal muscular dystrophy and chronic facial pain relieved by midface soft tissue support, namely, the reconstructive rhytidectomy."
2.	Denervation 07/01/2003 - "In the present study, the distribution of synemin was examined using immunohistochemistry in muscle biopsy specimens from patients suffering from myofibrillar myopathy (MM, n=6), dermatomyositis (DM, n=3), inclusion body myositis (IBM, n=5), oculopharyngeal muscular dystrophy (OPD, n=3) and denervation atrophy (DA, n=3), to investigate the possible participation of this protein in the pathogenesis of various muscular diseases. "
3.	Myotomy 11/01/2012 - "Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy." 08/01/2006 - "To analyze long-term results of extramucosal cricopharyngeal myotomy in oculopharyngeal muscular dystrophy. " 08/01/2006 - "Long-term results of cricopharyngeal myotomy in oculopharyngeal muscular dystrophy." 10/01/1997 - "Upper esophageal sphincter myotomy in oculopharyngeal muscular dystrophy: long-term clinical results." 05/01/1988 - "Cricopharyngeal myotomy significantly improves both symptoms and pharyngeal emptying in patients with oculopharyngeal muscular dystrophy."
4.	Transplantation 01/01/2022 - "Combining mass cytometry, transcriptome profiling, in vitro co-culture experiments, and in vivo transplantation in immunodeficient mice, we investigated the role and nature of nonmyogenic cells (fibroadipogenic progenitors, FAPs) from human fibrotic muscles of healthy individuals (FibMCT ) and individuals with oculopharyngeal muscular dystrophy (OPMD; FibMOP ), as compared with nonmyogenic cells from human nonfibrotic muscle (MCT ). " 01/01/2014 - "Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study." 11/01/2011 - "The immortalized human cell lines from patients with Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, congenital muscular dystrophy, and limb-girdle muscular dystrophy type 2B had greatly increased proliferative capacity, and maintained their potential to differentiate both in vitro and in vivo after transplantation into regenerating muscle of immunodeficient mice. "
5.	Therapeutics 01/01/2006 - "Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder." 04/15/2019 - "RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement."