Adrenoleukodystrophy

From WikiMD.org
Jump to navigation Jump to search

Adrenoleukodystrophy (pronunciation: ad-reno-loo-ko-dis-tro-fee) is a rare genetic disorder that affects the adrenal glands, the white matter of the brain, and the testes.

Etymology

The term "Adrenoleukodystrophy" is derived from three words: "Adreno-" which refers to the adrenal glands, "-leuko-" which means white (referring to the white matter of the brain), and "-dystrophy" which means abnormal growth or development.

Overview

Adrenoleukodystrophy is a disorder that is characterized by the progressive loss of myelin, a complex substance that surrounds and insulates nerve cells, in the brain and adrenal insufficiency. It is a type of leukodystrophy and is also known as Schilder-Addison Complex. It affects primarily males and symptoms can appear at various ages.

Symptoms

Symptoms of Adrenoleukodystrophy can vary and may include behavioral changes, seizures, difficulty swallowing, hearing loss, visual impairment, impaired coordination, and progressive dementia.

Causes

Adrenoleukodystrophy is caused by mutations in the ABCD1 gene. This gene provides instructions for producing a protein that is involved in transporting certain fats (very long-chain fatty acids) into peroxisomes, which are small sacs within cells that process fats and other substances.

Diagnosis

Diagnosis of Adrenoleukodystrophy is based on clinical examination, biochemical testing (elevated levels of very long-chain fatty acids), and molecular genetic testing of the ABCD1 gene.

Treatment

Treatment for Adrenoleukodystrophy is symptomatic and supportive. It may include physical therapy, psychological support, special education, and medications to control seizures and muscle spasticity.

See Also

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski