What is ALD?Adrenoleukodystrophy (ALD) is a recessive genetic disorder that is caused by an abnormality in the ABCD1 gene on the X chromosome. The condition disrupts metabolism and the breakdown of certain fats called very-long-chain fatty acids.
By: Crystal Dey, Alexandria Echo Press
Adrenoleukodystrophy (ALD) is a recessive genetic disorder that is caused by an abnormality in the ABCD1 gene on the X chromosome. The condition disrupts metabolism and the breakdown of certain fats called very-long-chain fatty acids.
ALD affects white matter, like the brain, and the adrenal cortex. The brain is affected through demyelination. Demyelination occurs when the fatty coating that keeps nerve pulses confined and intact is stripped away. Because the nerves are not conducting properly, neurological difficulties occur and nerve cells in the brain are destroyed.
Adrenal insufficiency is characterized by low amounts of adrenaline and cortisol, which can cause problems with abnormal blood pressure, heart rate, sexual development and reproduction. A reduced lifespan can result from this disorder.
About two years after nervous system symptoms develop, a child can enter a long-term coma. The child could live in that state for up to 10 years.
Six types of ALD have been identified based on the age of a person when the condition manifests, childhood cerebral ALD (ages 4 to 8 years), adolescent cerebral ALD, adrenomyeloneuropathy, adult cerebral ALD, adrenal insufficiency only and ALD that occurs in females.
Treatments of ALD include a diet low in very-long-chain fatty acids, steroids such as cortisol and ingesting oils that have been proven to lower the blood levels of very-long-chain fatty acids. Bone marrow transplants are being experimented with as another treatment option.
Approximately one in every 20,000 people suffers from ALD. The disorder is passed down from parents to their children, usually mother to son. Women who are carriers can develop milder forms of the disease.
Women who may be carriers can be diagnosed 85 percent of the time with a very-long-chain fatty acid test and a DNA probe study. Tests to determine if ALD is present include blood level testing, chromosome study to look for changes in the ABCD1 gene and a magnetic resonance imaging (MRI) of the head. A prenatal diagnosis of x-linked ALD is also available.
SYMPTOMS OF ALD
Changes in muscle tone – spasms or spasticity
Difficulty understanding verbal communication
Deterioration of handwriting
Decreased fine motor control
Visual impairment, blindness
Muscle weakness, leg stiffness
Difficulty controlling urination
Increased skin pigmentation
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