What is adrenoleukodystrophy?
Adrenoleukodystrophy (ALD) is a rare genetic condition that affects the nervous system and the adrenal glands.
ALD can affect people in different ways. Some individuals may develop symptoms in childhood, while others may not be affected until they are adults.
What causes adrenoleukodystrophy?
Adrenoleukodystrophy is caused by a faulty gene preventing the breakdown of fatty acids in cells.
This leads to damage of the adrenal glands, the brain cells and the myelin, which is a substance surrounding nerve fibres that allows the brain cells to send messages to the rest of the body.
What are the symptoms of adrenoleukodystrophy?
The age of onset of symptoms, the rate of progression and the life expectancy differs between those affected.
In the childhood cerebral form of ALD, symptoms typically start to develop between the age of 4 and 10 and may include:
- Hyperactivity and behavioural changes
- Problems with memory and learning skills
- Minor infections causing severe illness due to dysfunction of the adrenal glands
Over the following months or years steadiness and skills gradually decline and increasing support may be needed.
Symptoms in the late stages of the condition may include:
- Deterioration of vision
- Seizures (epilepsy)
- Poor coordination and balance
- Difficulty chewing and swallowing
- Recurrent chest infections caused by swallowing difficulties
The most effective treatments for cerebral ALD are early diagnosis followed by stem cell transplantation or gene therapy if available.
For many adults with ALD, treatment focuses on symptom management, rehabilitation and monitoring for complications.
