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Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention-deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within six months to two years. Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted. Adrenomyeloneuropathy (AMN) manifests most commonly in an individual in his twenties or middle age as progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops by middle age. More than 20% of female carriers develop mild-to-moderate spastic paraparesis in middle age or later. Adrenal function is usually normal. [from GeneReviews]
X-linked cerebral adrenoleukodystrophy
A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade. [from ORDO]
Demyelinating disease
A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. [from NCI]
Adrenomyeloneuropathy
A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood. [from ORDO]
X-linked intellectual disability
An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. [from MONDO]
Leukoencephalopathy
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. [from HPO]
Adrenal insufficiency
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. [from HPO]
Metabolic encephalopathy
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. [from MeSH]
Intellectual disability, X-linked 14
Nonsyndromic mental retardation with inconsistent abnormalities. [from MCA/MR]
Intellectual disability, X-linked 30
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. [from MONDO]
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