About Adrenoleukodystrophy

Adrenoleukodystrophy, also known as Schilder's disease or Siemerling-Creutzfeldt disease, is an inherited disorder caused by an X chromosome abnormality affecting the nervous system and adrenal glands. It causes progressive damage to the myelin that protects nerves in the peripheral and central nervous systems. The progression of the disease leads to failure of the adrenal glands, increasing brain damage, and death. Fortunately, this incurable disorder is a very rare one. Genetic screening and counseling is vital in families with a history of adrenoleukodystrophy.

Symptoms

Most cases of adrenoleukodystrophy are discovered in childhood, with symptoms ranging from imbalance, seizures and other nervous system disorders to vision and hearing loss. Addison's disease, a failure of the adrenal gland, is commonly a first symptom. First symptoms are usually identified between the ages of four and ten. These patients rarely live past the age of twelve. Most of the disease's victims are male.

In the less common adult onset forms of adrenoleukodystrophy, first signs and symptoms usually occur around spinal cord function. Adult patients will often initially present with numbness with weakness and tingling in limbs. These forms are still more common in males, but the adult types strike more females than in the childhood disease.

Diagnosis

To confirm a diagnosis of adrenoleukodystrophy, a blood test will be done to check for the chain of fatty acids that are a marker of the illness. Genetic tests, urine tests and nerve conduction studies will be performed.

Magnetic resonance imaging of the brain is usually done when adrenoleukodystrophy is suspected. The MRI image will show whether there are distinct abnormalities in the brain or damage characteristic of the disease. A fibroblast cell culture and skin biopsy are also needed to determine how efficiently the body is metabolizing the long-chain fatty acids.

Treatment

Since adrenoleukodystrophy is incurable at this time, treatment is centered on trying to slow disease progression and keeping the patient more comfortable through addressing individual symptoms.

There has been some progress in slowing the disease through stem cell transportation when it is diagnosed early enough. Anti-seizure medication as well as medication for muscle symptoms may be given. Physical therapy and orthotic devices are often provided. Many times wheelchairs, walkers and other mobility devices are necessary.

In some cases, surgery is required to place feeding tubes. Other surgery is sometimes done to decrease pain or free up muscles.

Specialized vision and hearing care is also often needed for adrenoleukodystrophy patients.

Currently, most individuals suffering from this disease lose their lives within one to ten years of diagnosis. However, research studies and experimental treatments are ongoing in attempts to improve the prognosis for adrenoleukodystrophy patients.

Sources:

National Institute of Health

Signet/Mosby Medical Encyclopedia

Mayo Clinic