Adrenoleukodystrophy Definition

Adrenoleukodystrophy is also known as ALD, Sudanophilic leukodystrophy and Schilder's disease. This is a rare disorder that is inherited which often leads to progressive damage of the brain, adrenal gland failure and eventually, death. ALD belongs to a group of disorders that are inherited which are called Leukodystrophies. Leukodystrophies often progressively destroy the myelin (a complex fatty neutral tissue which insulates numerous nerves of the peripheral and central nervous systems). The absence of myelin intensifies destruction. Patients of this disorder have a missing essential protein called the transporter protein. The transporter protein is needed in carrying an enzyme (the one used in breaking down long chain fatty acid in a normal person's diet). A long chain fatty acid accumulation can bring about brain damage and adrenal gland damage. Usually, the patients of ALD are males who inherit the X-linked disorder. Leudodystrophies are not similar to demyelinating diseases like multiple sclerosis where the myelin is normally formed but is eventually lost through immunologic dysfunction or for other causes.

Adrenoleukodystrophy Treatment

Currently, there is no known cure for the illness although there are dietary treatments made available. An example is Lorenzo's Oil which can be combined with a VLCFA-low diet (this showed only limited success). The transplantation of bone marrow has also been proven to help ALD patients. These patients are the ones who are either afflicted with just mild symptoms or are just on the early stages of ALD. Lovastatin is a drug which seems to help but the means of action remains unclear.

Adrenoleukodystrophy Symptoms and Signs

The clinical manifestations of ALD are dependent on the age when the disease ensues. The severest type is the childhood cerebral type which often occurs in baby males aged 4 through 10. These patients often have seizures, ataxia, developmental retardation, adrenal insufficiency, and also degeneration of their auditory and visual functions. This type could also manifest in adolescents and, in rare cases, some adults. The other type of ALD is the spinal cord dysfunction which chiefly afflicts young men. This is a more prominent form and is therefore called adrenomyeloneuropathy or AMN. The AMN patients usually show numbness and weakness of the limbs and problems in urinating or defecating. Although most victims of this form are males, there are some cases where females also show symptoms of AMN. Clinical findings establish the diagnosis of this disorder. Serum long chain fatty acid level discoveries also establish the case. White matter defects are often shown by MRI scanning and the neuroimaging results are suggestive of multiple sclerosis findings. There are some centers that have genetic testing to analyze the defective gene.

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