Oculopharyngeal muscular dystrophy 1(OPMD1)

MedGen UID:: 1054618
•Concept ID:: CN376802
•: Disease or Syndrome

Synonym:	OPMD1

Gene (location): Gene(s) directly associated with this condition or phenotype.	PABPN1 (14q11.2)

Monarch Initiative:	MONDO:0958176
OMIM®:	164300

Definition

Oculopharyngeal muscular dystrophy-1 (OPMD1) is an autosomal dominant late-onset neuromuscular disease characterized by proximal muscle weakness, ptosis, and swallowing difficulty (summary by Robinson et al., 2006). Genetic Heterogeneity of Oculopharyngeal Muscular Dystrophy See also OPMD2 (620460), caused by mutation in the HNRNPA2B1 gene (600124) on chromosome 7p15. [from OMIM]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOculopharyngeal muscular dystrophy
- CROGVOculopharyngeal muscular dystrophy 1
- CROGVOculopharyngeal muscular dystrophy 2

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Muscular dystrophy
        Oculopharyngeal muscular dystrophy
        Oculopharyngeal muscular dystrophy 1

Professional guidelines

PubMed

Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis.

Keene KR, Kan HE, van der Meeren S, Verbist BM, Tannemaat MR, Beenakker JM, Verschuuren JJGM
J Cachexia Sarcopenia Muscle 2022 Dec;13(6):2820-2834. Epub 2022 Sep 29 doi: 10.1002/jcsm.13089. PMID: 36172973 Free PMC Article

Eyelid ptosis (Blepharoptosis) for the primary care practitioner.

Avdagic E, Phelps PO
Dis Mon 2020 Oct;66(10):101040. Epub 2020 Jun 27 doi: 10.1016/j.disamonth.2020.101040. PMID: 32605719

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.

Halter J, Schüpbach W, Casali C, Elhasid R, Fay K, Hammans S, Illa I, Kappeler L, Krähenbühl S, Lehmann T, Mandel H, Marti R, Mattle H, Orchard K, Savage D, Sue CM, Valcarcel D, Gratwohl A, Hirano M
Bone Marrow Transplant 2011 Mar;46(3):330-337. Epub 2010 May 3 doi: 10.1038/bmt.2010.100. PMID: 20436523 Free PMC Article

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