Van der Knaap Syndrome

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Van Der Knaap Syndrome, also known as Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts, LVM, VL, Leukoencephalopathy with swelling, and Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC).

[edit] Definition

Van der Knaap syndrome is one of the leukodystrphies, which is a disease of the nervous system that causes degenerative damage to the nerves by degrading the myelin sheaths that normally coat neurons.

[edit] Description, Signs and Symptoms

Symptoms usually begin to appear between birth and ten years of age. Symptoms can include:

Seizures
Ataxia: loss the ability to coordinate muscular movement
Macrocephaly: an abnormally large head
Spasticity: muscle spasms
Difficulties with learning
Mental decline

[edit] Inheritance

[edit] Demographics

[edit] Diagnosis

This syndrome can be diagnosed by observation of clinical symptoms and by doing an MRI, which would produce a characteristic pattern. A genetic test may be diagnostic but there are some people with this condition who do not have mutations in the gene.