Metachromatic Leukodystrophy
Metachromatic Leukodystrophy
It is defined as the condition in which lipid start to accumulated in your cells. It is the hereditary condition which affect most commonly to spinal cord, brain and peripheral nerves. Metachromatic leukodystrophy occur due to the lack of enzyme which is used to break down the lipids called sulfatides.
Symptoms
Metachromatic leukodystrophy has following signs and symptoms:
- Seizures
- Hearing loss
- Blindness
- Gallbladder problems
- Behavioral problems
- Loss of thinking ability
- Memory loss
Causes
It is the hereditary disorder which is cause by the mutation in the DNA which affect the enzyme synthesis called sulfatides. The most common mutation is occurred in the ARSA gene.
Diagnosis
After taking history and performing a general physical examination your doctor might recommend the following tests:
- Nerve conduction test to check the conduction pathway of neurons,
- Lab tests to check enzyme level
- MRI to check the images of brain
- Genetic test to check the cause of this condition
Treatment
There is no any specific treatment for this condition is available right now but there are certain treatment options to reduce the signs and symptoms and manage the complications, treatment options include:
- Nutritional diet to improve feeding condition
- Medications to reduce the seizures and behavioral issues
- Physical therapy
- Speech therapy