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Disease Profile
Muscle eye brain disease
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
Infancy
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.
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)
MEB; Muscle-eye-brain disease; Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy).[1][2] Individuals with this condition are born with muscle weakness (
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 | ||
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
0002353 | ||
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 |
EMG abnormality | 0003457 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
0000501 | ||
Too much cerebrospinal fluid in the brain
|
0000238 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Optic atrophy | 0000648 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
30%-79% of people have these symptoms | ||
Abnormality of the voice |
Voice abnormality
|
0001608 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Hypertonia | 0001276 | |
Muscular |
Low or weak muscle tone
|
0001252 |
0001250 | ||
5%-29% of people have these symptoms | ||
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Holoprosencephaly | 0001360 | |
Meningocele | 0002435 | |
Percent of people who have these symptoms is not available through HPO | ||
Aplasia/Hypoplasia of the |
0007370 | |
0000007 | ||
Buphthalmos |
Enlarged eyeball
|
0000557 |
Cerebellar cyst | 0002350 | |
Cerebellar dysplasia | 0007033 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Coloboma |
Notched pupil
|
0000589 |
Symptoms present at birth
|
0003577 | |
Decreased lightand dark-adapted electroretinogram amplitude | 0000654 | |
Enlarged flash visual evoked potentials | 0008045 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Generalized muscle weakness | 0003324 | |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ] |
0002365 |
Hypoplasia of the retina |
Underdeveloped retina
|
0007770 |
IQ less than 20
|
0002187 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Megalocornea |
Enlarged cornea
|
0000485 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular dystrophy | 0003560 | |
Myoclonus | 0001336 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Opacification of the corneal stroma | 0007759 | |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Pallor | 0000980 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Retinal atrophy | 0001105 | |
Retinal degeneration |
Retina degeneration
|
0000546 |
Retinal dysplasia | 0007973 | |
Severe global Cause MEB is caused by
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
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Social Networking Websites
Organizations Providing General Support
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
Selected Full-Text Journal Articles
References
Rare Dermatology News |