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  3. Progressive external ophthalmoplegia, autosomal recessive 1
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Progressive external ophthalmoplegia, autosomal recessive 1


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Other Names:
Progressive external ophthalmoplegia with cerebellar ataxia infantile; Autosomal recessive progressive external ophthalmoplegia; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Progressive external ophthalmoplegia with cerebellar ataxia infantile; Autosomal recessive progressive external ophthalmoplegia; Cerebellar ataxia infantile with progressive external ophthalmoplegia; arPEO See More
Categories:
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary Summary


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

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.
Last updated: 10/1/2019

Symptoms Symptoms


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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.

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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
High-arched foot
0001761
Positive Romberg sign 0002403
Progressive external ophthalmoplegia 0000590
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Rigidity
Muscle rigidity
0002063
Sensory ataxic neuropathy 0003434
Steppage gait
High stepping
0003376
Subsarcolemmal accumulations of abnormally shaped mitochondria 0003548
Showing of 70 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Learn More Learn More


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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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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