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Disease Profile

Oculopharyngodistal myopathy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

G71.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

OPDM; Oculopharyngeal distal myopathy

Categories

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease.[1][2] People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected.[1][2][3] A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.[1][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Nasal, dysarthic speech
Breathy speech
0008376
Progressive external ophthalmoplegia
0000590
Progressive ptosis
Progressive drooping of upper eyelid
0007838
Weakness of facial musculature
Decreased facial muscle strength
Decreased strength of facial muscles
Face weakness
Facial muscle weakness
Facial weakness
Reduced facial muscle strength
Weakness of face

[ more ]

0030319
Weight loss
0001824
30%-79% of people have these symptoms
Abnormal morphology of musculature of pharynx
0430015
Bowing of the vocal cords
0008756
Difficulty in tongue movements
0000183
Distal lower limb amyotrophy
0008944
Distal upper limb amyotrophy
0007149
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Impaired oropharyngeal swallow response
0031162
Myopathic facies
0002058
Oral-pharyngeal dysphagia
0200136
Progressive distal muscle weakness
0009063
Recurrent aspiration pneumonia
0002100
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Vocal cord paresis
Weakness of the vocal cords
0001604
5%-29% of people have these symptoms
Abnormality of masseter muscle
3000005
Areflexia
Absent tendon reflexes
0001284
Difficulty walking
Difficulty in walking
0002355
Distal upper limb muscle weakness
0008959
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

0003236
Fatigable weakness of bulbar muscles
0030192
Foot dorsiflexor weakness
Foot drop
0009027
Loss of ability to walk
0006957
Progressive proximal muscle weakness
0009073
Progressive sensorineural hearing impairment
0000408
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Sensorineural hearing impairment
0000407
Tibialis muscle weakness
0008963
1%-4% of people have these symptoms
Abnormality of orbicularis oris muscle
3000010
Paraplegia
Leg paralysis
0010550
Proximal muscle weakness in upper limbs
0008997
Percent of people who have these symptoms is not available through HPO
Aspiration
0002835
Autophagic vacuoles
0003736
Autosomal dominant inheritance
0000006
Distal amyotrophy
Distal muscle wasting
0003693
Distal muscle weakness
Weakness of outermost muscles
0002460
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
EMG: myopathic abnormalities
0003458
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Facial palsy
Bell's palsy
0010628
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Increased variability in muscle fiber diameter
0003557
Nasal speech
Nasal voice
0001611
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Ptosis
Drooping upper eyelid
0000508
Rimmed vacuoles
0003805
Slow progression
Signs and symptoms worsen slowly with time
0003677

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Oculopharyngodistal myopathy. Click on the link to view a sample search on this topic.

References

  1. Durmus H, Laval SH, Deymeer F et al. Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. Neurology. January, 2011; 18;76(3):227-35. https://www.ncbi.nlm.nih.gov/pubmed/21242490.
  2. Oculopharyngodistal myopathy. Orphanet. 2017; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98897.
  3. Zhao J, Liu J, Xiao J, et al. Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy. Ling F, ed. PLoS ONE. 2015; 10(6):e0128629. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454561/.