ald-1 - SYNONYMS NATURE OF ALD DIFFERENT FORMS SYMPTOMS...

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Unformatted text preview: SYNONYMS NATURE OF ALD DIFFERENT FORMS SYMPTOMS GENE LOCATION AMN Addison Disease with Cerebral Sclerosis Addison-Schilder Disease Adrenomyeloneuropathy Adult Onset ALD Bronze Schilders Disease Encephalitis Periaxilais Diffusa Flatau-Schilders Disease Melanodermic Leukodystophy Myelinoclastic Diffuse Sclerosis Schilder Disease Schilder Encephalitis Slewering-Creutzfeldt Disease Sudanophilic Leukodystrophy,ADL Adrenoleukodystrophy (ALD) is a rare, genetic disorder characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain and progressive disfunction of the adrenal gland. People with ALD accumulate high levels of saturated, very long chain fatty acids in their brain and adrenal cortex because the fatty acids are not broken down by an enzyme in the normal manner. The first report of a patient with X-chromosomal linked adrenoleukodystrop hy (X-ALD) was published in the medical literature in 1923. The name adrenoleukodystrophy was introduced by Michael Blaw in 1970, and is defined as a serious progressive, genetic disorder, which affects the adrenal glands and the white matter of the nervous system. It was first recognized in 1923 and has been known as Schilder's disease and sudanophilic leukodystrophy. Blaw coined the name adrenoleukodystrophy; adreno refers to the adrenal glands; leuko refers to the white matter of the brain, and dystrophy means imperfect growth or development. There are several forms of ALD. Onset of the classic childhood form, which is the most severe and affects only boys, may occur between ages 4 and 10. Features of this form may include visual loss, learning disabilities, seizures, dysarthria (poorly articulated speech), dysphagia (difficulty swallowing), deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, melanoderma (increased skin pigmentation), and progressive dementia . The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. In the milder adult-onset form, which typically begins between ages 21 and 35, symptoms may include leg stiffness, progressive spastic paraparesis (stiffness, weakness and/or paralysis) of the lower extremities, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Another form of ALD is occasionally seen in women who are carriers of the disorder. Symptoms are mild and may include spastic paraparesis of the lower limbs, ataxia, hypertonia (excessive muscle tone), mild peripheral neuropathy, and urinary problems....
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This note was uploaded on 12/24/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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ald-1 - SYNONYMS NATURE OF ALD DIFFERENT FORMS SYMPTOMS...

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