Rare Medical 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.
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.
0
Age of onset
All ages
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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.
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 |
|
Disease of the heart muscle
|
0001638 | |
| Cytochrome C oxidase-negative muscle fibers | 0003688 | |
|
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 | |
| 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 |
|
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 |
| 0000007 | ||
| Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
|
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 |
0002922 | |
| Increased variability in muscle fiber diameter | 0003557 | |
| Limb ataxia | 0002070 | |
| Mildly elevated creatine kinase | 0008180 | |
| Mitral regurgitation | 0001653 | |
| Mitral valve prolapse | 0001634 | |
| Multiple |
0003689 | |
| Muscle fiber necrosis | 0003713 | |
| Parkinsonism | 0001300 | |
| Pes cavus |
DiagnosisMaking 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
Learn moreThese 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
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