Kate and Charlotte
Adrenoleukodystrophy


Nature of the Genetic Difficulty

The most common type of ALD is X-linked, and is caused by a mutation in the ABCD1 gene of the X chromosome that is passed down from a parent. "It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20,000 people from all races."ALD_Brain.jpg

Basic Facts of Disease

The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. Adrenoleukodystrophy (ALD), is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies. Adrenoleukodystrophy progressively damages the myelin sheath, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without functional myelin, nerves are unable to aid in the conduction of an impulse, which leads to increasing disability.
ALD, as seen through a Brain scan, decreases the presense of white matter in the brain.
Normal_Brain.jpg
Symptoms:
Changes in muscle tone, especially muscle spasms and spasticity
Crossed eyes (strabismus)
Decreased understanding of verbal communication (aphasia)
Deterioration of handwriting
Difficulty at school
Difficulty understanding spoken material
Hearing loss
Hyperactivity
Worsening nervous system deterioration
Coma
Decreased fine motor control
Paralysis
Seizures
Swallowing difficulties
Visual impairment or blindness
Tests:
Blood levels
Chromosome study to look for changes (mutations) in the ABCD1 gene
MRI of the head
Mostly able to tell by a certain again (around 4-8) due to severe behavioral changes.
Although this disorder affects the growth and/or development of myelin, leukodystrophies are different from demyelinating disorders such as multiple sclerosis where myelin is formed normally but is lost by immunologic dysfunction or for other reasons.

Prognosis

The childhood form of X-linked adrenoleukodystrophy is a progressive disease that leads to a long-term coma (vegetative state) about 2 years after neurological symptoms develop. The child can live in this condition for as long as 10 years until death occurs.
The other forms of this disease are milder (such as: Adrenomyelopathy, and Impaired adrenal gland function aka Addison's Disease)

Sources Cited

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002165/
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