Adrenoleukodystrophy

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Adrenoleukodystrophy
Lorenzos Oil

• By Nicolette Laird

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Adrenoleukodystrophy facts

• Also known as Addison-Schilder Disease,
  Siemerling-Cruetz Feldt Disease, ALD
• Rare disease
• 1 in 20,000 people have disease
• Leads to brain damage, failure of adrenal glands,
  death
• Part of leukodystropies group

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Symptoms

• Damages myelin- tissue that insulates nerves and
  help conduct impulses
• Transporter protiens are missing in people with
  ALD
• Long Chain Fatty Acids build up in body
• Can damage adrenal glands and brain

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Inheritance

• X-linked disease
• Abnormal gene located on x-chromosome
• Inherited through autosomal recessive inheritance
• Gene carrying mutation is located on one of the
  1-22 chromosome pairs

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• For example
• If a female carrier has daughters with an
  unaffected man, the daughters have a 50 chance
  of becoming a carrier.
• If a female carrier has sons with an unaffected
  man, the sons have a 50 chance of developing the
  disease

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• If both parents are carriers, there is a 50
  chance that the children will be carriers, a 25
  chance that they will be normal, and a 25 chance
  that they will have the disease.

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Three Types of ALD

• Childhood cerebral form
• Most common type
• Adult-onset form
• Mild forms of ALD found in carriers

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Childhood cerebral form

• Occurs in ages 4-10
• Death usually occurs 1-10 years after onset of
  symptoms

Symptoms

• Difficulty swallowing
• Deafness
• Disturbances of gait and coordination
• Fatigue
• Intermittent vomiting
• Increased skin pigmentation
• Progressive dementia

• Behavioral changes
• Abnormal withdrawal, aggression
• Poor memory
• Poor school performance
• Visual loss
• Learning disabilities
• Seizures
• Poorly articulated speech

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Adult Onset-form

• Occurs in ages 21-35

Symptoms

• Progressive stiffness
• Weakness or paralysis of lower limbs
• ataxia

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Mild forms of ALD

• Carriers can develop mild forms of ALD

Symptoms

• Progressive stiffness
• Weakness or paralysis of lower limbs
• Ataxia
• Excessive muscle tone
• Mild peripheral neuropathy
• Urinary problems

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Diagnosis

• Blood levels taken to see if there are elevated
  very-long chain fatty acids
• Chromosome study are taken to see if there is an
  ABCD1 gene mutation
• MRI taken of brain to show damage to white matter
  of brain

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Treatments

• Adrenal function tested periodically in patients
• Physical therapy
• Psycological support
• Special education
• Lorenzos oil (mixture of oleic acid and eruci
  acid)
• Can reduce/delay symptoms in boys with ALD
• Bone marrow transplants
• Carries risk of death
• Oral administered docosa hexanoic acid (DHA) in
  infants with neonatal ALD

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Research

• Gene therapy- temporarily removing appropriate
  cells from patient, inserting corrected genetic
  sequence
• Disease process will stop or reverse and begin to
  make needed enzymes
• Myelin Restoration

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Lorenzo Odone

• Borne May 29, 1978 to Michaela and Augusto Odone
• Was diagnosed with ALD at age 6
• Was unable to hear, move, see, or swallow
• Parents would not let him die
• Researched ALD
• Came up with Lorenzos oil and helped save his
  life
• Parents must attend Lorenzo 24/7
• Parents stopped going to parties or doing
  anything to care for son
• Died One day after his 30th birthday

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Support groups

• http//www.aldfoundation.org/
• http//www.alds.org.au/ald.htm
• http//www.lifeknowledgepark.org.uk/projects/patie
  ntsupport/supportgroup.php

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Bibliography

• http//www.healthsystem.virginia.edu/urahealth/hub
  _cancer/ari.cfm
• http//www.ninds.nih.gov/disorders/adrenoleukodyst
  rophy/adrenoleukodystrophy.htm
• http//www.umm.edu/ency/article/001182.htm
• http//www.nlm.nih.gov/MEDLINEPLUS/ency/article/00
  1182.htm
• http//www.stopald.ord/watisals/asp
• http//i.dailymail.co.uk/i/pix/2008/06/01/article-
  0-003D583400000258-790_468x665.jpg
• http//www.sjsu.edu/faculty/gerstman/StatPrimer/au
  torecessive.jpg

• http//www.ulf.org/types/xALD/html
• http//www.thisislondon.co.uk/showbiz/article-2348
  9187-details/Hisparents27battletosavehimins
  piredthefilmLorenzo27sOil.NowLorenzoOdone
  27ssisterwritesmovinglyofalifethattaughth
  erthemeaningofhope.../article.do
• http//rarediseases.about.com/od/myelindisorders/p
  /lorenzoodone.htm
• http//www.26noticias.com.ar/adjuntos/imagen/85178
  .jpg
• http//ghr.nlm.nih.gov/handbook/illustrations/xlin
  krecessivemother.jpg

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The End