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Deepika vegiraju: Created page with "== '''Alternate names''' == Bilateral generalised polymicrogyria == '''Definition''' == Bilateral generalized polymicrogyria is a rare neurological disorder that affects..."

2021-03-10T13:02:47Z

Created page with "== '''Alternate names''' == Bilateral generalised polymicrogyria == '''Definition''' == Bilateral generalized polymicrogyria is a rare neurological disorder that affects..."

New page

== '''Alternate names''' ==
Bilateral generalised polymicrogyria

== '''Definition''' ==
Bilateral generalized polymicrogyria is a rare [[neurological]] disorder that affects the [[cerebral cortex]] (the outer surface of the brain). This is the most widespread form of [[polymicrogyria]] and typically affects the entire surface of the brain.

== '''Cause''' ==
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.

== '''Inheritance''' ==
[[File:Autorecessive.svg|thumb|right|Autosomal recessive inheritance, a 25% chance]]
Most cases appear to follow an [[autosomal recessive]] pattern of inheritance.

== '''Signs and symptoms''' ==
Signs and symptoms include severe [[intellectual disability]], problems with movement, and [[seizures]] that are difficult or impossible to treat.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
'''80%-99% of people have these symptoms'''
* Delayed ability to walk
* Profound global [[developmental delay]]

'''30%-79% of people have these symptoms'''
* Cerebral visual impairment
* [[Intellectual disability]], severe(Early and severe mental retardation)
* Muscular [[hypotonia]] of the trunk(Low muscle tone in trunk)
* Mutism(Inability to speak)
* Spastic [[tetraplegia]]
* [[Stereotypy]](Repetitive movements)

'''5%-29% of people have these symptoms'''
* [[Atonic seizure]]
* [[Autistic]] behavior
* Bilateral [[tonic-clonic seizure]](Grand mal seizures)
* Diffuse white matter abnormalities
* [[Dilation]] of lateral ventricles
* [[Dyskinesia]](Disorder of involuntary muscle movements)
* Eyelid [[myoclonus]]
* Focal emotional [[seizure]] with laughing
* Focal motor seizure
* [[Gastroesophageal reflux]](Acid reflux)
* Generalized [[myoclonic seizure]]
* Generalized [[tonic seizure]]([[Hypoplasia]] of the [[corpus callosum]])(Underdevelopment of part of brain called corpus callosum)
* Hypoplastic [[hippocampus]](Small hippocampus)
* Impaired [[mastication]](Chewing difficulties)
* Infantile [[spasms]]
* [[Intellectual disability]], mild(Mental retardation, borderline-mild)
* Intellectual disability, moderate(IQ between 34 and 49)
* Intellectual disability, profound(IQ less than 20)
* [[Microcephaly]](Abnormally small skull)
* [[Nasogastric tube]] feeding
* Oculogyric crisis
* Oral-pharyngeal [[dysphagia]]
* Paroxysmal [[dyskinesia]]
* Self-injurious behavior(Self-injurious behaviour)
* Severe global [[developmental delay]]
* Short stature(Decreased body height)
* Sleep disturbance(Difficulty sleeping)
* Status epilepticus(Repeated seizures without recovery between them)
* Total [[ophthalmoplegia]]
* Typical absence seizure
* Widened subarachnoid space

== '''Diagnosis''' ==
* The diagnosis of PMG is typically made by [[MRI]] since [[computed tomography]] (CT) and other imaging methods do not have high enough resolution or adequate contrast to identify the small folds that define PMG.
* In 5% of cases, PMG is detected on prenatal ultrasound examination by the presence of abnormalities – usually microcephaly and/or associated brain malformations.<ref>Stutterd CA, Dobyns WB, Jansen A, et al. Polymicrogyria Overview. 2005 Apr 18 [Updated 2018 Aug 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1329/</nowiki></ref>[https://www.ncbi.nlm.nih.gov/books/NBK1329//].

== '''Treatment''' ==
Treatment is based on the signs and symptoms present in each person.

== '''References''' ==
<references />

{{Congenital malformations and deformations of nervous system}}

[[Category:Congenital disorders of nervous system]]
[[Category:Tubulinopathies]]
{{rarediseases}}
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Bilateral generalized polymicrogyria - Revision history

Prab at 18:24, 18 March 2025

Prab: CSV import

Deepika vegiraju: Created page with "== '''Alternate names''' == Bilateral generalised polymicrogyria == '''Definition''' == Bilateral generalized polymicrogyria is a rare neurological disorder that affects..."