Research Evidence
Peer-reviewed studies linked via MeSH term "Muscular Dystrophy, Oculopharyngeal" from the MEDLINE/PubMed database.
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A systematic review and meta-analysis of measurements of tongue and hand strength and endurance using the Iowa Oral Performance Instrument (IOPI).
[object Object], [object Object], [object Object] et al. · Dysphagia · 2013
PMID: 23468283Meta-Analysis
Speech pathology interventions in patients with neuromuscular diseases: a systematic review.
[object Object], [object Object], [object Object] et al. · Folia Phoniatr Logop · 2011
PMID: 20689305Meta-Analysis
Emerging and established biomarkers of oculopharyngeal muscular dystrophy.
[object Object], [object Object], [object Object] et al. · Neuromuscul Disord · 2023
PMID: 37926637Review
Eyelid ptosis (Blepharoptosis) for the primary care practitioner.
[object Object], [object Object] · Dis Mon · 2020
PMID: 32605719Review
Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.
[object Object], [object Object], [object Object] et al. · Ann Plast Surg · 2020
PMID: 31833892Review
Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal.
[object Object], [object Object], [object Object] · Orphanet J Rare Dis · 2019
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies.
[object Object], [object Object], [object Object] et al. · Neurol Sci · 2019
PMID: 30847674Review
Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association.
[object Object], [object Object], [object Object] et al. · Acta Biomed · 2018
Recent advances in liver transplantation for metabolic disease.
[object Object] · J Inherit Metab Dis · 2017
PMID: 28168361Review
Progress on gene therapy, cell therapy, and pharmacological strategies toward the treatment of oculopharyngeal muscular dystrophy.
[object Object], [object Object], [object Object] et al. · Hum Gene Ther · 2015
PMID: 25860803Review
Search all PubMed articles for Oculopharyngeal muscular dystrophy
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Gait disturbance
Always present (100%)HP:0001288
Nasal speech
Always present (100%)HP:0001611
Progressive ptosis
Always present (100%)HP:0007838
Proximal limb muscle weakness
Always present (100%)HP:0003701
Abnormal skeletal muscle fibre morphology
Very frequent (80-99%)HP:0004303
Deglutition disorder
Very frequent (80-99%)HP:0002015
Eye muscle paralysis
Very frequent (80-99%)HP:0000602
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Myopathy
Very frequent (80-99%)HP:0003198
Ragged-red muscle fibers
Very frequent (80-99%)HP:0003200
Rimmed vacuoles
Very frequent (80-99%)HP:0003805
Spondylolisthesis
Very frequent (80-99%)HP:0003302
Tiredness
Very frequent (80-99%)HP:0012378
Angulated muscle fibers
Frequent (30-79%)HP:0034045
Axial muscle weakness
Frequent (30-79%)HP:0003327
Dysphonia
Frequent (30-79%)HP:0001618
Fatty replacement of skeletal muscle
Frequent (30-79%)HP:0012548
Feeding difficulties
Frequent (30-79%)HP:0011968
Limb-girdle muscle weakness
Frequent (30-79%)HP:0003325
Muscle fibre intranuclear inclusion bodies
Frequent (30-79%)HP:0100304
Pain
Frequent (30-79%)HP:0012531
Reduced FEV1
Frequent (30-79%)HP:0032342
Tongue muscle weakness
Frequent (30-79%)HP:0000183
Wasting of the tongue
Frequent (30-79%)HP:0012473
Weakness of face
Frequent (30-79%)HP:0030319
Wet voice
Frequent (30-79%)HP:6001011
Elevated serum creatine phosphokinase
Occasional (5-29%)HP:0003236
Mask-like facies
Occasional (5-29%)HP:0000298
Intellectual impairment
Very rare (1-4%)HP:0100543
Sleep apnea
Very rare (1-4%)HP:0010535
Related Conditions
Digestive system hereditary disorder(parent)
Autosomal dominant muscular dystrophy not predominantly limb girdle(parent)
Myopathy of extraocular muscles(parent)
Hereditary disorder of the visual system(parent)
Congenital anomaly of pharynx(parent)
Chronic respiratory disease(parent)
Chronic disorder of digestive system(parent)
Congenital anomaly of neck(parent)
Chronic disease of ocular adnexa(parent)
Congenital anomaly of ocular adnexa(parent)
Congenital anomaly of face(parent)
Abnormal muscle morphology of pharynx(parent)
Quick Facts
- SNOMED CT
- 77097004
- UMLS CUI
- C0270952
- Fully Specified Name
- Oculopharyngeal muscular dystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.