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Disease Profile

Muscle eye brain disease

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

Infancy

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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

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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)

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 (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner.[3][1] Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

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
EEG abnormality
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
Glaucoma
0000501
Hydrocephalus
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
Strabismus
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
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Hypertonia
0001276
Muscular hypotonia
Low or weak muscle tone
0001252
Seizure
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 corpus callosum
0007370
Autosomal recessive inheritance
0000007
Buphthalmos
Enlarged eyeball
0000557
Cerebellar cyst
0002350
Cerebellar dysplasia
0007033
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Coloboma
Notched pupil
0000589
Congenital onset
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
Intellectual disability, profound
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
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
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
Nystagmus
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 mutations in the POMGNT1 gene.[4] This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation.[5] This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body.[4]

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Organizations

    Support 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 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

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • 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 Muscle eye brain disease. Click on the link to view a sample search on this topic.

            Selected Full-Text Journal Articles

              References

              1. Raffaele Falsaperla, Andrea D. Praticò, Martino Ruggieri, Enrico Parano, Renata Rizzo, Giovanni Corsello, Giovanna Vitaliti, Piero Pavone. Congenital muscular dystrophy: from muscle to brain. Ital J Pediatr. August 31, 2016; 42(1):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006267/.
              2. Susan E Sparks, Susana Quijano-Roy, Amy Harper, Anne Rutkowski, Erynn Gordon, Eric P Hoffman, Elena Pegoraro. Congenital Muscular Dystrophy Overview. GeneReveiws. August 23, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1291/. Accessed 11/11/2016.
              3. Cassandra L. Kniffin. MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY. OMIM Database. 10/14/2016; https://www.omim.org/entry/253280. Accessed 10/28/2016.
              4. Reed UC. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arquivos de Neuro-Psiquiatria. March 2009; 67:144-168. https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100038&lng=en&nrm=iso&tlng=en.
              5. Gordon E, Hoffman EP, Pegoraro E. Congenital Muscular Dystrophy Overview. Gene Reviews. December 22, 2006; https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cmd-overview. Accessed 7/21/2009.

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