About brain, micropolygyria
What is brain, micropolygyria?
Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited as an autosomal recessive trait. Symptoms of this disorder are apparent at birth and progress slowly. In addition to general muscle weakness and deformities of the joints (contractures), FCMD is often accompanied by seizures, mental retardation and speech problems. This disorder is predominantly found in Japan.
What are the symptoms for brain, micropolygyria?
Joint deformities symptom was found in the brain, micropolygyria condition
Brain Micropolygyria is a neuronal migration condition caused by the development of several small convolutions/microgyria. This leads to Intellectual disability and other neurological anomalies.
It is important to note that Micropolygyria is not a disease, to begin with; it is just descriptive while the primary cause of brain malformation is unknown.
1. Symptoms (as per affected areas of the brain) of Brain Micropolygyria are listed below:
Cognitive & motor delay, spastic quadriparesis, epilepsy (Bilateral Frontal Micropolygyria)
2. Severe cognitive & motor delay, seizures, dysconjugate gaze, cerebellar malfunctions (Bilateral Frontoparietal Micropolygyria)
3. Pseudobulbar signs, cognitive anomaly, epilepsy, low motor neuron disorder (Bilateral Perisylvian Micropolygyria)
4. Partial seizures, some along with an intellectual developmental disorder (Bilateral Parasagittal Parieto-occipital Micropolygyria)
5. Cognitive & motor delay of varying severity, Seizures (Bilateral Generalized Micropolygyria)
In common words:
1. Frequent seizures
2. Late development
3. Crossed eyes
4. Issues with speech
5. Problem swallowing
6. Weakness in muscles
7. Paralysis
Symptoms
Epilepsy,Intellectual deficits,Delayed development,Crossed eyes,Speech disabilities,Trouble swallowing,Muscle weakness
Conditions
mTORopathies,Tubulinopathies,Cobblestone dysplasia
Drugs
Antiepileptic drugs, including Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid
What are the causes for brain, micropolygyria?
Brain Micropolygyria is a brain malformation in which the cortex develops an excessive number of small gyri due to abnormal folding of one or more cortical lamina. The malformation may be focal or widespread. The symptoms and their severity depend on the distribution and area of malformation. It leads to severe neurological deficits causing intellectual deficits, crossed eyes, recurrent seizures, delayed mental development, speech and swallowing problems, and muscle weakness. Surgical interventions are preferable when patients are having severe epileptic seizures, or in case of refractory response to anti-epileptic drugs
Causes
1. The exact mechanism of PMG is unclear yet. However, several studies have identified genetic and environmental factors responsible for the disease.
2. Congenital infection, usually with cytomegalovirus, during gestation, is the most common cause of PMG.
3. Intrauterine hypoxia and trauma to the fetus may also cause malformations.
4. Studies have also proposed the fusion of adjacent gyral surfaces to cause PMG.
5. Impaired proliferation and migration of neuroblasts cause early development of PMG, whereas disordered post-migrational maturation of the cerebral cortex. Pial cells secrete signaling factors required for neuronal migration. The disruption in the signaling leads to tangential migration of neuronal cells, resulting in malformations.
6. Cajal-Retzius cells are involved in normal corticogenesis through their migration and interaction with meninges. Any abnormality in migration and meningeal interaction leads to cortical underdevelopment.
7. Genetic studies have revealed mutations in over 40 genes associated with PMG.
Symptoms
Epilepsy,Intellectual deficits,Delayed development,Crossed eyes,Speech disabilities,Trouble swallowing,Muscle weakness
Conditions
mTORopathies,Tubulinopathies,Cobblestone dysplasia
Drugs
Antiepileptic drugs, including Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid
What are the treatments for brain, micropolygyria?
Brain Polymicrogyria is a brain malformation characterized by an excessive number of abnormally small gyri. The gyrus is a ridge-like structure formed due to the folding of the lick layer of nervous tissue found in the cerebrum of the brain. The exact cause of the PMG is still unclear. However, some environmental factors, genetic mutations, and other conditions have been associated with it. The malformation usually initiates in the fetus and leads to neurological deficits.
Treatment
1. Currently, there is no modality to reverse the disease. However, the available treatments are symptomatic and supportive.
2. Anti-epileptic drugs include Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid.
3. Studies have shown a significant reduction in the number of epileptic episodes and their severity through surgical interventions. Surgical interventions include resection of epileptic foci and anatomic or functional hemispherectomy.
4. Hemispherectomy is a complex procedure in which a cerebral half that causes seizures is disconnected, removed, or disabled. The anatomic type refers to the removal of the hemisphere, whereas functional one refers to severing the neural connections of the hemisphere
5. The epileptic foci, the areas in the brain where the seizure originate, are mapped using scalp electroencephalography, intracranial electrocorticography, or volumetric magnetic resonance imaging. The patients may require procedures to implant electrodes for mapping the epileptic foci, before the actual surgery.
Symptoms
Epilepsy,Intellectual deficits,Delayed development,Crossed eyes,Speech disabilities,Trouble swallowing,Muscle weakness
Conditions
mTORopathies,Tubulinopathies,Cobblestone dysplasia
Drugs
Antiepileptic drugs, including Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid
What are the risk factors for brain, micropolygyria?
Brain Polymicrogyria (PMG) is a neuroanatomical disorder in which the brain has an excessive number of abnormally small gyral formations in the cerebral cortex. The severity of the clinical manifestations depends on the distribution and extent of the affected area. It may be either focal or widespread. The common symptoms are epilepsy, intellectual deficits, delayed development, crossed eyes, speech disabilities, trouble swallowing, and muscle weakness.
Risk factors
1. Since the definite cause and mechanism of malformations are yet unclear, the risk factors have not been clearly defined. However, various genes are involved in pathogenesis.
2. Genetic predisposition
3. PMG can also be caused by genetic mutations that are inherited in autosomal recessive, dominant, and X-linked fashion. Hence, familial history of PMG is a major risk factor.
4. When causative mutations are autosomal dominant, even a single monozygotic parent passes on the disease to the child. Whereas recessive mutations pose a high risk when both parents are either affected or are carriers.
5. X-linked mutations pose a high risk to a male child when the mother is affected. Because a male baby receives an X-chromosome from the mother.
6. Hypoxia due to ischemic and traumatic events in the developing stage of infancy may increase the possibility of malformations.
7. Infections with cytomegalovirus have been seen in several cases of PMG.
8. Multiple gestations and other documented problems related to pregnancy are associated with the disease.
Symptoms
Epilepsy,Intellectual deficits,Delayed development,Crossed eyes,Speech disabilities,Trouble swallowing,Muscle weakness
Conditions
mTORopathies,Tubulinopathies,Cobblestone dysplasia
Drugs
Antiepileptic drugs, including Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid
Is there a cure/medications for brain, micropolygyria?
Brain Polymicrogyria (PMG) is a brain malformation in which gyri are abnormally small and excessive in number and believed to initiate at the stage of the fetus. Well accepted mechanisms are abnormal migration of neuroblasts and defected maturation of cortical regions after the maturation. Over 40 genes have been associated with the disease. The fetal origin may occur due to infections, multiple gestations, and other pregnancy-related factors. Patients experience recurrent seizures, delayed growth, crossed eyes, speech disabilities, trouble swallowing, and muscle weakness.
Cure/medication
1. Currently, there is no cure or medication for polymicrogyria. Since the disease is caused anatomically by abnormal migration of neuroblasts or error in cortical maturation after migration, it cannot be reversed. However, medications are available to treat a major symptom, epilepsy.
2. Antiepileptic drugs, including Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid provide temporary relief from seizures.
3. Alternatively, surgical procedures have shown a reduction of severity by up to 90%. Surgical interventions include resection and hemispherectomy.
4. 5. Resection refers to the removal of a part of the brain from where the seizures originate. The part is called epileptic foci. Resection is preferred when the PMG is focal.
When PMG is widespread, hemispherectomy is more suitable, and it refers to the removal, disconnection, or disabling of an entire half of the cerebrum.
Symptoms
Epilepsy,Intellectual deficits,Delayed development,Crossed eyes,Speech disabilities,Trouble swallowing,Muscle weakness
Conditions
mTORopathies,Tubulinopathies,Cobblestone dysplasia
Drugs
Antiepileptic drugs, including Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid