Adrenoleukodystrophy (ALD)

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Adrenoleukodystrophy (ALD) is a rare. It is a genetic disorder, meaning that it is caused by a gene that you will have gotten from your parents. The condition of the myelin sheath, which covers your nerve cells in your brain for protection.

It is caused by a mutation in a gene that leads to the buildup of certain fatty acids in the body that affects the nervous system and adrenal glands. The adrenal glands are just above the kidneys and make hormones for the body.

Who's most at risk?

ALD primarily affects boys and usually appears in childhood. Symptoms may include difficulty with coordination and balance, changes in behavior and personality, and problems with vision and hearing.

How can I test for it?

Diagnosing ALD involves a combination of medical history, physical examination, and specialized tests. Doctors may ask about symptoms and family history, and perform a neurological examination to assess motor skills and reflexes. Blood tests can detect high levels of certain fatty acids, which may indicate ALD. Genetic testing can confirm the presence of the gene mutation responsible for the disorder.

What are my options to manage it?

Currently, there is no cure for ALD. However, early detection and intervention can help manage symptoms and slow down the progression of the disease.

Treatment options may include:

• medications to control adrenal gland function and reduce the buildup of fatty acids
• physical therapy and occupational therapy - helps to improve mobility and daily functioning.

Can I prevent it?

As ALD is a genetic disorder, there is nothing that has been confirmed to help prevent it. However, genetic counseling and testing can be helpful for families with a history of ALD.

Identifying carriers of the gene mutation can assist in making informed decisions about family planning. It is also important to raise awareness about ALD and its symptoms to ensure early detection and timely intervention.