Rare Ophthalmology News

Disease Profile

Progressive external ophthalmoplegia, autosomal recessive 1

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

All ages

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ICD-10

H49.4

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.

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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)

Progressive external ophthalmoplegia with cerebellar ataxia infantile; Autosomal recessive progressive external ophthalmoplegia; Cerebellar ataxia infantile with progressive external ophthalmoplegia;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 254886

Definition
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.

Visit the Orphanet disease page for more resources.

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
30%-79% of people have these symptoms
Adult onset
Symptoms begin in adulthood
0003581
Cardiomyopathy
Disease of the heart muscle
0001638
Cytochrome C oxidase-negative muscle fibers
0003688
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Facial palsy
Bell's palsy
0010628
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance

[ more ]

0000298
Mitochondrial myopathy
0003737
Myopathy
Muscle tissue disease
0003198
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Ragged-red muscle fibers
0003200
Sensory axonal neuropathy
0003390
5%-29% of people have these symptoms
Abnormal retinal morphology
Retina issue
0000479
Abnormality of the cerebral white matter
0002500
Abnormality of the cerebrospinal fluid
0002921
Action tremor
0002345
Ataxia
0001251
Bradykinesia
Slow movements
Slowness of movements

[ more ]

0002067
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
Cogwheel rigidity
0002396
Depressivity
Depression
0000716
Distal sensory impairment
Decreased sensation in extremities
0002936
Dyschromatopsia
Color blindness
0007641
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

0003546
Hand muscle weakness
0030237
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Muscle fiber atrophy
Muscle fiber degeneration
0100295
Muscle stiffness
0003552
Optic atrophy
0000648
Optic neuritis
0100653
Parkinsonism with favorable response to dopaminergic medication
0002548
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Ptosis
Drooping upper eyelid
0000508
Shuffling gait
Shuffled walk
0002362
Stooped posture
0025403
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
Weak voice
Soft voice
0001621
1%-4% of people have these symptoms
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
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
Scapular winging
Winged shoulder blade
0003691
Percent of people who have these symptoms is not available through HPO
Areflexia
Absent tendon reflexes
0001284
Autosomal recessive inheritance
0000007
Distal muscle weakness
Weakness of outermost muscles
0002460
Dysarthria
Difficulty articulating speech
0001260
Dysphonia
Inability to produce voice sounds
0001618
EMG: myopathic abnormalities
0003458
Emotional lability
Emotional instability
0000712
Gait ataxia
Inability to coordinate movements when walking
0002066
Generalized amyotrophy
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized

[ more ]

0003700
Impaired distal proprioception
0006858
Impaired distal vibration sensation
0006886
Increased CSF protein
0002922
Increased variability in muscle fiber diameter
0003557
Limb ataxia
0002070
Mildly elevated creatine kinase
0008180
Mitral regurgitation
0001653
Mitral valve prolapse
0001634
Multiple mitochondrial DNA deletions
0003689
Muscle fiber necrosis
0003713
Parkinsonism
0001300
Pes cavus

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 Progressive external ophthalmoplegia, autosomal recessive 1 . Click on the link to view a sample search on this topic.

Rare Ophthalmology News