Background
What is MLD?
Clinical Presentation
and Course
What are the signs?
Many signs and symptoms arise that suggest a patient is suffering from a white matter disease such as Metachromatic Leukodystrophy. There may be a decrease in muscle tone, a decrease in intellectual functioning, difficulties with speech, eating, and swallowing, or an increase in irritability. Lowered, or absent tendon reflexes, decorticate posturing, poor visual fixation, abnormal eye movements (nystagmus) or even coma may also point to MLD.
Cells obtained by amniocentesis or chorionic villi sampling can be used to diagnose MLD prenatally. This option is usually only made available to families who have already given birth to one child with MLD, or if the disease has already occurred in a close relative.
Chorionic Villi Sampling:
Amniocentesis:
In order to obtain cells from the placenta surface, a thin catheter is inserted into the cervix and uterus and a sampling of cells is suctioned into the tube. Ultrasound is used to guide placement of the catheter. |
Using ultrasound as a guide, a doctor uses a hollow needle to withdraw some of the amniotic fluid surrounding the fetus. Fetal cells in this fluid are then analyzed for various chromosomal abnormalities. |
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