What Is Adrenoleukodystrophy (ALD) and How Is It Diagnosed?


Introduction

Adrenoleukodystrophy (ALD) is a type of hereditary (genetic) neurological condition that damages the myelin sheath, the membrane which insulates nerve cells in your brain and nervous system. In a person suffering from ALD, the body can’t break down ‘very long-chain fatty acids’ or VLCFAs, which causes saturated VLCFAs to build up in the brain, the nervous system, and the adrenal glands. According to some of the top neurologists in Gurgaon and Delhi NCR, there are different types of ALDs, but the most common type is the X-linked ALD, which is caused by the genetic defect in the X chromosome, and affects more males than females. Females, however, can still carry the disease without being affected by it.

Diagnosis

Diagnosis of ALD consists of neurologists reviewing the patient’s symptoms as well as medical and family history. We asked some experts from the best neurology hospital in Delhi NCR, and they supplied us with information on the several tests used to diagnose ALD. These include:

·       Blood tests: Blood tests are done to check high levels of very long-chain fatty acids (VLCFAs) in the patient’s blood. Presence of these VLCFAs signifies adrenoleukodystrophy. These blood samples are genetically tested, and any defects or mutations causing ALD are identified. Blood tests are also done to analyse adrenal gland function.

·       MRI: Magnetic Resonance Imaging or MRI uses powerful magnets to create a detailed imagery of the brain. The doctors can then detect any abnormalities in the brain which might be causing adrenoleukodystrophy.Indications can include damage to the nerve tissue (white matter) of your brain. There are several types of MRI that may be used by neurologists to view minutely detailed images of the brain.
·       Vision screening: This a test which measures visual responses, and can help monitor disease progression in males who don’t present any other symptoms.
·       Skin biopsy and fibroblast cell culture: In this procedure, a small sample of skin is taken and analyzed by a doctor to check for increased levels of VLCFA.

The above-mentioned hospitals in Gurgaon are super-specialty hospitals with only the best neuro physicians in Gurgaon staffed there.
Location: Block C, Sushant Lok Phase I, Sector 43, Gurugram, Haryana 122022, India

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