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

Guidelines for genetic testing of muscle and neuromuscular junction disorders.

Nicolau S, Milone M, Liewluck T
Muscle Nerve 2021 Sep;64(3):255-269. Epub 2021 Jun 16 doi: 10.1002/mus.27337. PMID: 34133031

Progress on gene therapy, cell therapy, and pharmacological strategies toward the treatment of oculopharyngeal muscular dystrophy.

Harish P, Malerba A, Dickson G, Bachtarzi H
Hum Gene Ther 2015 May;26(5):286-92. Epub 2015 May 11 doi: 10.1089/hum.2015.014. PMID: 25860803

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