Definition:
Neonatal ALD (short for neonatal adenoleukodystrophy) is a genetic disease affecting infants, causing damage to the adrenal gland and the myelin sheath, or the protective coating of the nerve cells.
Diagnosis:
Diagnosis of neonatal ALD can be made on the basis of observed symptoms, along with a family history and a biochemical test to screen for elevated levels of very long chain fatty acids in samples from plasma, amniocentesis, fibroblasts, or red blood cells.
Treatment:
There is currently no cure for neonatal ALD, and treatment is mostly symptomatic and supportive. Physical therapy and psychological counseling are usually integrated in the overall approach. In some cases, special education of affected children may be recommended. To date, no medications exist that can reverse the demyelination of nerve and brain cells.
Symptoms and Signs:
Symptoms of neonatal ALD, which are typically present at birth, include: facial abnormalities; mental retardation; retinal degeneration; seizures; adrenal dysfunction; low muscle tone or hypotonia; as well as an enlarged liver (hepatomegaly). Most neonatal ALD patients die within 1-10 years from the onset of symptoms.
Causes:
Neonatal ALD is caused by genetic factors. It is an inherited condition with an autosomal recessive pattern of inheritance. Neonatal ALD can affect both male and female babies.
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