ALD, or Adrenoleukodystrophy, is a rare genetic disorder that affects the nervous system and can lead to physical and neurological disability. The disorder is caused by a mutation in the ABCD1 gene, which is responsible for the production of a protein known as ALDP. ALDP is responsible for breaking down long-chain fatty acids, which are essential for normal functioning of the central nervous system.
The age at which ALD is diagnosed can vary greatly, depending on the type of ALD and the symptoms that are present. The most common type of ALD is the childhood form, which typically presents itself between the ages of 4 and 10. This form of ALD is often characterized by progressive demyelination of the white matter in the brain, leading to intellectual and physical disability. Symptoms may include difficulty walking, vision problems, hearing loss, seizures, behavior changes, and cognitive decline.
In contrast, the adult form of ALD typically does not present itself until later in life, often between the ages of 20 and 50. Symptoms of this form of ALD are often less severe, but may include progressive neurological decline, loss of coordination, muscle weakness, pain, and fatigue.
Lastly, there is a form of ALD known as adrenomyeloneuropathy, which usually presents itself in adulthood, typically between the ages of 30 and 40. Symptoms of this form of ALD may include problems with vision, hearing, and coordination as well as difficulty walking.
In general, ALD is a complex and unpredictable disorder, and the age at which it is diagnosed can vary greatly depending on the type of ALD and the symptoms that are present. It is important to consult a doctor if you or your child are experiencing any of the symptoms mentioned, as early diagnosis and treatment can be life-saving.