Adrenoleukodystrophy (ALD) is a genetic disorder that damages the membrane covering nerve cells in the brain and spinal cord. It also affects the adrenal glands. The symptoms become apparent from age 4 to 10. It can be present in later ages also. The symptoms include loss of vision, learning disabilities, deafness, lack of coordination and balance, lack of appetite, progressive dementia, etc.
What is the Diagnosis of Adrenoleukodystrophy?
For the diagnosis of Adrenoleukodystrophy, the healthcare provider will review your medical history, symptoms, and also family history. A physical examination and certain tests are conducted to confirm the disease. The diagnostic tests include-
- Blood tests - This will examine the levels of long-chain fatty acids (VLCFAs) in the bloodstream. High levels of VLCFAs indicate the possibility of ALD. Also, the working of adrenal glands will be examined through blood tests.
- Genetic tests - Done to detect mutations that cause ALD.
- MRI - The powerful radio waves of the MRI scan procedure create images of the brain. Through this, abnormalities in the brain including nerve damage can be detected. Doctors make use of several types of MRI to identify the problem.
- Vision Screening - ALD diagnosis also includes vision screening, especially in males who do not show any symptoms related to
- Skin Biopsy and fibroblast cell culture - A sample of skin will be examined to check for increased levels of VLCFA.
The infants will undergo newborn examination which includes the screening for ALD.