Adrenoleukodystrophy (ALD)

 

ALD GENETIC DISORDER 🧬

Dr.Mohan lal Ghoshlya (MS,MCH) neurology 

Adrenoleukodystrophy 

A Rare genetic disorder 

Adrenoleukodystrophy (ALD) is a genetic disorder that affects the nervous system and the adrenal glands. It is caused by a mutation in the ABCD1 gene, which codes for a protein that helps break down certain fats in the body. As a result, these fats accumulate in the adrenal glands and the white matter of the brain, leading to damage to the myelin sheath that insulates nerve cells.

ALD can have different forms with varying severity, but the most common and severe form is childhood cerebral ALD (CCALD), which typically develops in boys between the ages of 4 and 10 years. Symptoms of CCALD may include progressive cognitive and motor dysfunction, behavioral changes, seizures, and vision and hearing loss. The disease can progress rapidly, leading to a vegetative state and death within a few years.

TREATMENT 

There is currently no cure for ALD, but treatments such as hematopoietic stem cell transplantation, gene therapy, and Lorenzo's oil (a dietary supplement that may slow the progression of the disease) can help manage symptoms and improve outcomes. Early diagnosis and treatment are crucial for the best possible outcome.

Diagnosis 

(1)Blood testing. These tests check for high levels of very long-chain fatty acids (VLCFAs) in your blood, which are a key indicator of adrenoleukodystrophy.Doctors use blood samples for genetic testing to identify defects or mutations that cause ALD. Doctors also use blood tests to evaluate how well your adrenal glands work.

(2)MRI. 

 Powerful magnets and radio waves create detailed images of your brain in an MRI scan. This allows doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue (white matter) of your brain. Doctors may use several types of MRI to view the most-detailed images of your brain and detect early signs of leukodystrophy.

(3) VISION SCREENING. Measuring visual responses can monitor disease progression in males who have no other symptoms.

(4)Skin biopsy and fibroblast cell culture. A small sample of skin may be taken to check for increased levels of VLCFA in some cases.

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