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AdrenoleukodystrAdrenoleukodystrophyophy
By Nicolette LairdBy Nicolette Laird
Lorenzo’s OilLorenzo’s Oil
Adrenoleukodystrophy factsAdrenoleukodystrophy facts
Also known as Addison-Schilder Also known as Addison-Schilder Disease, Siemerling-Cruetz Feldt Disease, Siemerling-Cruetz Feldt Disease, ALDDisease, ALD
Rare diseaseRare disease• 1 in 20,000 people have disease1 in 20,000 people have disease
Leads to brain damage, failure of Leads to brain damage, failure of adrenal glands, deathadrenal glands, death
Part of leukodystropies groupPart of leukodystropies group
SymptomsSymptoms
Damages myelin- tissue that Damages myelin- tissue that insulates nerves and help conduct insulates nerves and help conduct impulsesimpulses
Transporter protiens are missing in Transporter protiens are missing in people with ALDpeople with ALD
Long Chain Fatty Acids build up in Long Chain Fatty Acids build up in bodybody
Can damage adrenal glands and Can damage adrenal glands and brainbrain
InheritanceInheritance X-linked diseaseX-linked disease
• Abnormal gene located on x-Abnormal gene located on x-chromosomechromosome
Inherited through autosomal Inherited through autosomal recessive inheritancerecessive inheritance• Gene carrying mutation is located on Gene carrying mutation is located on
one of the 1-22 chromosome pairs one of the 1-22 chromosome pairs
For example:For example: If a female carrier has daughters with an If a female carrier has daughters with an
unaffected man, the daughters have a 50% unaffected man, the daughters have a 50% chance of becoming a carrier.chance of becoming a carrier.
If a female carrier has sons with an unaffected If a female carrier has sons with an unaffected man, the sons have a 50% chance of developing man, the sons have a 50% chance of developing the diseasethe disease
If both parents are carriers, there is a 50% If both parents are carriers, there is a 50% chance that the children will be carriers, a 25% chance that the children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will be normal, and a 25% chance that they will have the disease.chance that they will have the disease.
Three Types of ALDThree Types of ALD
Childhood cerebral form Childhood cerebral form • Most common typeMost common type
Adult-onset formAdult-onset form Mild forms of ALD found in carriersMild forms of ALD found in carriers
Childhood cerebral Childhood cerebral formform
• Behavioral changesBehavioral changes Abnormal withdrawal, Abnormal withdrawal,
aggressionaggression
• Poor memoryPoor memory• Poor school Poor school
performanceperformance• Visual lossVisual loss• Learning disabilitiesLearning disabilities• SeizuresSeizures• Poorly articulated Poorly articulated
speechspeech
• Difficulty swallowing Difficulty swallowing • DeafnessDeafness• Disturbances of gait Disturbances of gait
and coordinationand coordination• FatigueFatigue• Intermittent vomitingIntermittent vomiting• Increased skin Increased skin
pigmentationpigmentation• Progressive dementiaProgressive dementia
Occurs in ages 4-10Occurs in ages 4-10Death usually occurs 1-10 years after onset of Death usually occurs 1-10 years after onset of symptomssymptoms
SymptomsSymptoms
Adult Onset-Adult Onset-formform
Progressive stiffnessProgressive stiffness Weakness or paralysis of lower limbsWeakness or paralysis of lower limbs ataxiaataxia
•Occurs in ages 21-35Occurs in ages 21-35
SymptomsSymptoms
Mild forms of ALDMild forms of ALD Carriers can develop mild forms of Carriers can develop mild forms of
ALDALDSymptomsSymptoms
•Progressive stiffnessProgressive stiffness
•Weakness or paralysis of lower limbsWeakness or paralysis of lower limbs
•AtaxiaAtaxia
•Excessive muscle toneExcessive muscle tone
•Mild peripheral neuropathyMild peripheral neuropathy
•Urinary problemsUrinary problems
DiagnosisDiagnosis
Blood levels taken to see if there are Blood levels taken to see if there are elevated very-long chain fatty acidselevated very-long chain fatty acids
Chromosome study are taken to see Chromosome study are taken to see if there is an ABCD1 gene mutationif there is an ABCD1 gene mutation
MRI taken of brain to show damage MRI taken of brain to show damage to white matter of brainto white matter of brain
TreatmentsTreatments Adrenal function tested periodically in patientsAdrenal function tested periodically in patients Physical therapyPhysical therapy Psycological supportPsycological support Special educationSpecial education Lorenzo’s oil (mixture of oleic acid and eruci acid)Lorenzo’s oil (mixture of oleic acid and eruci acid)
• Can reduce/delay symptoms in boys with ALDCan reduce/delay symptoms in boys with ALD Bone marrow transplantsBone marrow transplants
• Carries risk of deathCarries risk of death Oral administered docosa hexanoic acid (DHA) in Oral administered docosa hexanoic acid (DHA) in
infants with neonatal ALDinfants with neonatal ALD
ResearchResearch
Gene therapy- temporarily removing Gene therapy- temporarily removing appropriate cells from patient, appropriate cells from patient, inserting corrected genetic sequenceinserting corrected genetic sequence• Disease process will stop or reverse and Disease process will stop or reverse and
begin to make needed enzymesbegin to make needed enzymes Myelin RestorationMyelin Restoration
Lorenzo OdoneLorenzo Odone
Borne May 29, 1978 to Michaela and Augusto Borne May 29, 1978 to Michaela and Augusto OdoneOdone
Was diagnosed with ALD at age 6Was diagnosed with ALD at age 6 Was unable to hear, move, see, or swallow Was unable to hear, move, see, or swallow Parents would not let him dieParents would not let him die
• Researched ALDResearched ALD• Came up with Lorenzo’s oil and helped Came up with Lorenzo’s oil and helped
save his lifesave his life Parents must attend Lorenzo 24/7Parents must attend Lorenzo 24/7 Parents stopped going to parties or doing Parents stopped going to parties or doing
anything to care for sonanything to care for son Died One day after his 30Died One day after his 30thth birthday birthday
Support groupsSupport groups
http://www.aldfoundation.org/http://www.aldfoundation.org/ http://www.alds.org.au/ald.htmhttp://www.alds.org.au/ald.htm http://www.lifeknowledgepark.org.uk/http://www.lifeknowledgepark.org.uk/
projects/patientsupport/supportgroupprojects/patientsupport/supportgroup.php.php
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s/adrenoleukodystrophy/adrenoles/adrenoleukodystrophy/adrenoleukodystrophy.htmukodystrophy.htm
http://www.umm.edu/ency/article/http://www.umm.edu/ency/article/001182.htm001182.htm
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http://www.thisislondon.co.uk/shohttp://www.thisislondon.co.uk/showbiz/article-23489187-details/Hiswbiz/article-23489187-details/His+parents%27+battle+to+save+h+parents%27+battle+to+save+him+inspired+the+film+Lorenzo%im+inspired+the+film+Lorenzo%27s+Oil.+Now+Lorenzo+Odone%27s+Oil.+Now+Lorenzo+Odone%27s+sister+writes+movingly+of+27s+sister+writes+movingly+of+a+life+that+taught+her+the+ma+life+that+taught+her+the+meaning+of+hope.../eaning+of+hope.../article.doarticle.do
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The EndThe End