Rare Nephrology News

Disease Profile

Bilateral generalized polymicrogyria

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

-

ICD-10

Q04.3

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)

Bilateral generalised polymicrogyria

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain).[1][2][3] This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain.[1] Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat.[1][2] While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth.[2] Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.[1][2][3]

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
Delayed ability to walk
0031936
Profound global developmental delay
0012736
30%-79% of people have these symptoms
Cerebral visual impairment
0100704
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Mutism
Inability to speak
Muteness

[ more ]

0002300
Spastic tetraplegia
0002510
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior

[ more ]

0000733
5%-29% of people have these symptoms
Atonic seizure
0010819
Autistic behavior
0000729
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Diffuse white matter abnormalities
0007204
Dilation of lateral ventricles
0006956
Dyskinesia
Disorder of involuntary muscle movements
0100660
Eyelid myoclonus
0025097
Focal emotional seizure with laughing
0010821
Focal motor seizure
0011153
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Generalized myoclonic seizure
0002123
Generalized tonic seizure
0010818
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplastic hippocampus
Small hippocampus
0025517
Impaired mastication
Chewing difficulties
Chewing difficulty
Difficulty chewing

[ more ]

0005216
Infantile spasms
0012469
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Intellectual disability, moderate
IQ between 34 and 49
0002342
Intellectual disability, profound
IQ less than 20
0002187
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Nasogastric tube feeding
0040288
Oculogyric crisis
0010553
Oral-pharyngeal dysphagia
0200136
Paroxysmal dyskinesia
0007166
Self-injurious behavior
Self-injurious behaviour
0100716
Severe global developmental delay
0011344
Short stature
Decreased body height
Small stature

[ more ]

0004322
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
Status epilepticus
Repeated seizures without recovery between them
0002133
Total ophthalmoplegia
0007824
Typical absence seizure
0011147
Widened subarachnoid space
0012704
1%-4% of people have these symptoms
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376

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

    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.

    Where to Start

    • Genetics Home Reference (GHR) contains information on Bilateral generalized polymicrogyria. This website is maintained by the National Library of Medicine.

      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.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        Selected Full-Text Journal Articles

          References

          1. Polymicrogyria. Genetics Home Reference. June 2009; https://ghr.nlm.nih.gov/condition/polymicrogyria. Accessed 6/15/2015.
          2. Chang B, Walsh CA, Apse K, Bodell A. Polymicrogyria Overview. GeneReviews. August 6, 2007; https://www.ncbi.nlm.nih.gov/books/NBK1329/. Accessed 6/15/2015.
          3. Polymicrogyria. Cortical Foundation. https://cortfoundation.org/cms/get-informed/types-of-malformations/polymicrogyria/. Accessed 6/15/2015.