Adrenoleukodystrophy (patient information): Difference between revisions
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{{Template:Adrenoleukodystrophy (patient information)}} | |||
'''For the WikiDoc page for this topic, click [[Adrenoleukodystrophy|here]]''' | '''For the WikiDoc page for this topic, click [[Adrenoleukodystrophy|here]]''' | ||
{{ | {{CMG}}; '''Assistant Editor(s)-In-Chief:''' Alexandra M. Palmer | ||
==Overview== | |||
[[Adrenoleukodystrophy]] describes several closely related [[inherited]] [[disorders]] that disrupt the breakdown ([[metabolism]]) of certain [[fats]] (very-long-chain [[fatty acids]]). | |||
==What are the symptoms of Adrenoleukodystrophy?== | |||
'''Childhood [[cerebral]] type:''' | |||
*Changes in [[muscle tone]], especially [[muscle spasms]] and [[spasticity]] | |||
*[[Crossed eyes]] ([[strabismus]]) | |||
*Decreased understanding of verbal communication ([[aphasia]]) | |||
*Deterioration of handwriting | |||
*Difficulty at school | |||
*Difficulty understanding spoken material | |||
*[[Hearing loss]] | |||
*[[Hyperactivity]] | |||
*Worsening [[nervous system]] deterioration | |||
**[[Coma]] | |||
**Decreased fine motor control | |||
**[[Paralysis]] | |||
*[[Seizures]] | |||
*[[Swallowing difficulties]] | |||
*[[Visual impairment]] or [[blindness]] | |||
'''Adrenomyelopathy:''' | |||
*Difficulty controlling [[urination]] | |||
*Possible worsening [[muscle weakness]] or [[leg]] [[stiffness]] | |||
*Problems with thinking speed and [[visual memory]] | |||
'''Adrenal gland failure (Addison type):''' | |||
*[[Coma]] | |||
*[[Decreased appetite]] | |||
*Increased [[skin color]] ([[pigmentation]]) | |||
*[[Loss of weight]], [[muscle mass]] ([[wasting]]) | |||
*[[Muscle weakness]] | |||
*[[Vomiting]] | |||
==What causes Adrenoleukodystrophy?== | ==What causes Adrenoleukodystrophy?== | ||
[[Adrenoleukodystrophy]] is passed down from parents to their children as an [[X-linked]] [[genetic trait]]. It therefore affects mostly [[males]], although some [[women]] who are [[Genetic carrier|carriers]] can have milder forms of the [[disease]]. It affects approximately 1 in 20,000 people from all races. | |||
The [[condition]] results in the buildup of very-long-chain [[fatty acids]] in the [[nervous system]], [[adrenal gland]], and [[testes]], which disrupts normal activity. There are three major categories of [[disease]]: | |||
*Childhood [[cerebral]] form -- appears in mid-childhood (at ages 4 - 8) | |||
*Adrenomyelopathy -- occurs in men in their 20s or later in life | |||
*Impaired [[adrenal gland]] function (called [[Addison disease]] or Addison-like [[phenotype]]) -- [[adrenal gland]] does not produce enough [[steroid hormones]] | |||
== | ==Who is at highest risk?== | ||
[[Adrenoleukodystrophy]] is a [[genetic disorder]], so anyone with a [[family history]] of the [[disorder]] is at risk. Since the [[disease]] is passed down from parents to their children as an [[X-linked]] [[genetic trait]], [[males]] are mostly affected. | |||
==When to seek urgent medical care== | ==When to seek urgent medical care?== | ||
Call your [[health care provider]] if: | |||
*Your child develops symptoms of [[X-linked]] [[adrenoleukodystrophy]] | |||
*Your child has [[X-linked]] [[adrenoleukodystrophy]] and is getting worse | |||
==Diagnosis== | |||
*[[Blood]] levels | |||
*[[Chromosome]] study to look for changes ([[mutations]]) in the [[ABCD1]] gene | |||
*[[MRI]] of the [[head]] | |||
==Treatment options== | ==Treatment options== | ||
[[Adrenal]] [[dysfunction]] is treated with [[steroids]] (such as [[cortisol]]). | |||
A specific treatment for [[X-linked]] [[adrenoleukodystrophy]] is not available, but eating a [[diet]] low in very-long-chain [[fatty acids]] and taking special oils can lower the [[blood]] levels of very-long-chain [[fatty acids]]. | |||
These oils are called [[Lorenzo's oil]], after the son of the family who discovered the treatment. This treatment is being tested for [[X-linked]] [[adrenoleukodystrophy]], but it does not cure the [[disease]] and may not help all [[patients]]. | |||
==Where to find medical care for Adrenoleukodystrophy== | [[Bone marrow transplant]] is also being tested as an experimental treatment. | ||
==Where to find medical care for Adrenoleukodystrophy?== | |||
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Adrenoleukodystrophy}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating Adrenoleukodystrophy] | [http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Adrenoleukodystrophy}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating Adrenoleukodystrophy] | ||
==What to expect (Outlook/Prognosis)== | ==What to expect (Outlook/Prognosis)?== | ||
The [[childhood]] form of [[X-linked]] [[adrenoleukodystrophy]] is a progressive [[disease]] that leads to a long-term [[coma]] ([[vegetative state]]) about 2 years after [[neurological]] symptoms develop. The child can live in this [[condition]] for as long as 10 years until [[death]] occurs. | |||
The other forms of this [[disease]] are milder. | |||
==Possible complications== | ==Possible complications== | ||
*[[Adrenal]] crisis | |||
*[[Vegetative state]] (long-term [[coma]]) | |||
==Sources== | ==Sources== | ||
http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Patient | |||
[[Category:Disease]] | |||
[[Category:Patient information]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Genetic disorders patient information]] | |||
[[Category:Pediatrics]] | |||
[[Category:Pediatrics patient information]] | |||
[[Category:Metabolic disorders]] | |||
[[Category:Metabolic disorders patient information]] | |||
[[Category:Overview complete]] | |||
[[Category:Congenital disorders]] | |||
[[Category:Congenital disorders patient information]] | |||
[[Category:Template complete]] | |||
Latest revision as of 18:29, 17 April 2012
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Adrenoleukodystrophy |
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Adrenoleukodystrophy On the Web |
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For the WikiDoc page for this topic, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor(s)-In-Chief: Alexandra M. Palmer
Overview
Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).
What are the symptoms of Adrenoleukodystrophy?
Childhood cerebral type:
- Changes in muscle tone, especially muscle spasms and spasticity
- Crossed eyes (strabismus)
- Decreased understanding of verbal communication (aphasia)
- Deterioration of handwriting
- Difficulty at school
- Difficulty understanding spoken material
- Hearing loss
- Hyperactivity
- Worsening nervous system deterioration
- Seizures
- Swallowing difficulties
- Visual impairment or blindness
Adrenomyelopathy:
- Difficulty controlling urination
- Possible worsening muscle weakness or leg stiffness
- Problems with thinking speed and visual memory
Adrenal gland failure (Addison type):
- Coma
- Decreased appetite
- Increased skin color (pigmentation)
- Loss of weight, muscle mass (wasting)
- Muscle weakness
- Vomiting
What causes Adrenoleukodystrophy?
Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20,000 people from all races.
The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are three major categories of disease:
- Childhood cerebral form -- appears in mid-childhood (at ages 4 - 8)
- Adrenomyelopathy -- occurs in men in their 20s or later in life
- Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones
Who is at highest risk?
Adrenoleukodystrophy is a genetic disorder, so anyone with a family history of the disorder is at risk. Since the disease is passed down from parents to their children as an X-linked genetic trait, males are mostly affected.
When to seek urgent medical care?
Call your health care provider if:
- Your child develops symptoms of X-linked adrenoleukodystrophy
- Your child has X-linked adrenoleukodystrophy and is getting worse
Diagnosis
Treatment options
Adrenal dysfunction is treated with steroids (such as cortisol).
A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids.
These oils are called Lorenzo's oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.
Bone marrow transplant is also being tested as an experimental treatment.
Where to find medical care for Adrenoleukodystrophy?
Directions to Hospitals Treating Adrenoleukodystrophy
What to expect (Outlook/Prognosis)?
The childhood form of X-linked adrenoleukodystrophy is a progressive disease that leads to a long-term coma (vegetative state) about 2 years after neurological symptoms develop. The child can live in this condition for as long as 10 years until death occurs.
The other forms of this disease are milder.
Possible complications
- Adrenal crisis
- Vegetative state (long-term coma)
Sources
http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm Template:WH Template:WS