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Disease Profile
Bilateral generalized polymicrogyria
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
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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.
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)
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
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 |
0012736 | |
30%-79% of people have these symptoms | ||
Cerebral visual impairment | 0100704 | |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Muscular |
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 |
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 |
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 |
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 |
0200136 | |
Paroxysmal dyskinesia | 0007166 | |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Severe global developmental delay | 0011344 | |
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 | ||
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
-
PMG Awareness Organization
4533 MacArthur Boulevard
Suite 5182
Newport Beach, CA 92660
Telephone: (949) 329-5975
E-mail: information@pmgawareness.org
Website: https://pmgawareness.org/
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
- Chang BS et al., Bilateral generalized polymicrogyria (BGP): A distinct syndrome of cortical malformation Neurology. 2004; 62:1722-1728.
References
- Polymicrogyria. Genetics Home Reference. June 2009; https://ghr.nlm.nih.gov/condition/polymicrogyria. Accessed 6/15/2015.
- 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.
- Polymicrogyria. Cortical Foundation. https://cortfoundation.org/cms/get-informed/types-of-malformations/polymicrogyria/. Accessed 6/15/2015.