Progressive external ophthalmoplegia, autosomal recessive 1

Title

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

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

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

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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

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 Genetics Home Reference.

Learn More 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.

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