Van der Knaap Syndrome

From WikiGenetics
Jump to: navigation, search

Contents

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).

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.

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

Inheritance

Demographics

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.

Treatment and Management

There is currently no cure for Van der Knapp syndrome, and it is treated by managing symptoms.

Prognosis

Resources

http://www.alds.org.au/vanderknaap.htm

http://www.ulf.org/types/vanderknapp.html

References

http://www.ulf.org/types/vanderknapp.html

Personal tools