What is Megalencephalic leukoencephalopathy?
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life.
What is Van der Knaap disease?
Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited, autosomal recessive disorder. It is characterised by macrocephaly and slowly progressive ataxia, spasticity, and cognitive decline. The usual age of onset is described from birth to infancy.
What is MLC disease?
Overview. Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy).
Why is it called Alexander disease?
Accordingly, it is more appropriate to consider Alexander disease a disease of astrocytes (an astrogliopathy) than a white matter disease (leukodystrophy). Alexander disease is named after the physician who first described the condition in 1949 (WS Alexander).
What is Canavan’s?
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies.
What causes MLC?
What Causes MLC? Patients with the classic type of MLC have two mutations in either the MLC1 gene (this type is called MLC1) or GLIALCAM gene (this disease type is MLC2A). The improving disease type (called MLC2B) is caused by one mutation in the GLIALCAM gene.
How common is Megalencephaly?
How common is megalencephaly? Megalencephaly isn’t common. It affects between 2% and 6% of children, although many cases don’t cause significant problems. In people with macrocephaly, 10% to 30% also have megalencephaly.
Is there a cure for Alexander’s disease?
There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6.
Can adults get Alexander disease?
Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, seizures, and poor coordination (ataxia).
What is the tongue and groove effect?
The tongue and groove effect is an underdosing effect which can occur in certain applications of multileaf collimators. It results from the need to overlap adjacent leaves of a multileaf collimator in order to limit leakage between leaves.
What are MLC’s made of?
A multileaf collimator (MLC) is a Collimator or beam-limiting device that is made of individual “leaves” of a high atomic numbered material, usually tungsten, that can move independently in and out of the path of a radiotherapy beam in order to shape it and vary its intensity.
What is megalencephalic leukoencephalopathy with subcortical cysts (MLC)?
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid and ion homeostasis. Patients affected by MLC present macrocephaly, cysts and white matter vacuolation, which lead to m …
What are the chances of being affected by megalencephalic leukoencephalopathy (Mle)?
At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenat … Megalencephalic Leukoencephalopathy with Subcortical Cysts Review In: GeneReviews®[Internet].
What are the signs and symptoms of leukoencephalopathy?
Leukoencephalopathy can lead to abnormal muscle tensing ( spasticity ), difficulty coordinating movements ( ataxia ), cysts in the brain (subcortical cysts), abnormal muscle tone ( dystonia ), swallowing difficulties, mild to moderate intellectual disabilities, speech difficulties, seizures, and difficulties walking.
What is an enlarged brain (megalencephaly)?
Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly leads to an increase in the size of the head ( macrocephaly ).