Editing Adrenoleukodystrophy (section)

==Signs and symptoms==
ALD can present in different ways. The different presentations are complicated by the pattern of [[X-linked recessive]] inheritance. There have been seven [[phenotype]]s described in males with ''[[ABCD1]]'' mutations and five in females.<ref name=scriver>{{cite book |last1=Moser |first1=Hugo W. |last2=Smith |first2=Kirby D. |last3=Watkins |first3=Paul A.|last4=Powers |first4=James |last5=Moser |first5 = Ann |editor1-first=C.W.|editor1-last=Scriver |editor2-first=A.L.|editor2-last=Beaudet |editor3-first=W.S.|editor3-last=Sly|editor4-first=D.|editor4-last=Valle |editor5-first=B. |editor5-last=Childs |editor6-first=K.W. |editor6-last=Kinzler |editor7-first=B. |editor7-last=Vogelstein |title=Metabolic and Molecular Bases of Inherited Disease |edition=8th |year=2001|publisher=McGraw Hill|location=New York |volume=2|isbn= 978-0-07-136320-4|chapter=131. X-Linked Adrenoleukodystrophy}}</ref>  Initial symptoms in boys affected with the childhood cerebral form of ALD include emotional instability, [[hyperactivity]] and disruptive behavior at school. Older patients affected with the cerebral form will present with similar symptoms.  Untreated, cerebral ALD is characterized by progressive demyelination leading to a [[vegetative state]] and death.<ref name=bergerreview>{{cite journal |last1=Berger |first1=Johannes |last2=Gärtner |first2=Jutta |title=X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects |journal=Biochimica et Biophysica Acta (BBA) - Molecular Cell Research |date=December 2006 |volume=1763 |issue=12 |pages=1721–1732 |doi=10.1016/j.bbamcr.2006.07.010 |pmid=16949688 |doi-access= }}</ref>  Adult males with an adrenomyeloneuropathy presentation typically present initially with muscle stiffness, paraparesis and sexual dysfunction.<ref name=genereviews />  All patients with clinically recognized ALD phenotypes are at risk for adrenal insufficiency.<ref name=bergerreview />  There is no reliable way to predict which form of the disease an affected individual will develop, with multiple phenotypes being demonstrated within families.<ref name=omim />  Onset of adrenal insufficiency is often the first symptom, appearing as early as two years of age.<ref name=genereviews>{{cite book|vauthors=Raymond GV, Moser AB, Fatemi A|veditors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A|chapter=X-Linked Adrenoleukodystrophy|title=GeneReviews|date=6 April 2023|orig-date=Originally published 26 March 1999|publisher=University of Washington, Seattle|location=Seattle|issn=2372-0697|pmid=20301491|id=National Library of Medicine Bookshelf ID NBK1315}}</ref>

===Male adrenoleukodystrophy phenotypes===
{| class="wikitable"
|+ Male adrenoleukodystrophy phenotypes<ref name=scriver />
|-
! width=15% |Phenotype
! width=50% |Description
! width=15% |Onset
! width=20% |Approximate relative frequency
|-
| Childhood cerebral
| Progressive neurodegenerative decline, leading to a vegetative state without treatment
| 3–10 years
| 31–35%
|-
| Adolescent
| Similar to childhood cerebral, with a slower progression
| 11–21 years
| 4–7%
|-
| Adrenomyeloneuropathy (AMN)
| Progressive [[neuropathy]], [[paraparesis]]; approximately 40% progress to cerebral involvement
| 21–37 years
| 40–46%
|-
| Adult cerebral
| [[Dementia]], behavioral disturbances, similar progression to childhood cerebral form, but without preceding AMN phenotype
| Adulthood
| 2–5%
|-
| Olivo-ponto-cerebellar
| Cerebral and [[brain stem]] involvement
| Adolescence to adulthood
| 1–2%
|-
| "[[Addison disease]] only"
| Adrenal insufficiency
| Before 7.5 years
| Up to 50% in childhood, varies with age
|-
| Asymptomatic
| No clinical presentation, further studies can reveal subclinical adrenal insufficiency or mild AMN phenotype
| Most common phenotype in boys under four years of age
| Proportion of asymptomatic patients decreases with age
|}

===Female adrenoleukodystrophy phenotypes===
{| class="wikitable"
|+ Female adrenoleukodystrophy phenotypes<ref name=scriver />
|-
! width=15% |Phenotype
! width=50% |Description
! width=15% |Onset
! width=20% |Approximate relative frequency
|-
| Asymptomatic
| No neurologic or adrenal involvement
| Most women under 30 do not have any neurologic involvement
| Diminishes with age
|-
| Mild myelopathy
| Increased deep tendon reflexes, sensory changes in lower extremities
| Adulthood
| Approximately 50% of women over 40 years of age
|-
| Moderate to severe myeloneuropathy
| Similar to male AMN phenotype, but later onset and milder presentation
| Adulthood
| Approximately 15% of women over 40 years of age
|-
| Cerebral involvement
| Progressive dementia and decline
| Rare in childhood, more common in adults
| ~2%
|-
| Adrenal involvement
| Primary adrenal insufficiency
| Any age
| ~1%
|}