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Adrenoleukodystrophy. Lorenzo’s Oil. By Nicolette Laird. 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

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Adrenoleukodystrophy

Adrenoleukodystrophy

Lorenzo’s Oil

By Nicolette Laird


Adrenoleukodystrophy facts
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


Symptoms
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


Inheritance
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


Adrenoleukodystrophy

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


Adrenoleukodystrophy


Three types of ald
Three Types of ALD children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • Childhood cerebral form

    • Most common type

  • Adult-onset form

  • Mild forms of ALD found in carriers


Childhood cerebral form

Behavioral changes children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

Abnormal withdrawal, aggression

Poor memory

Poor school performance

Visual loss

Learning disabilities

Seizures

Poorly articulated speech

Difficulty swallowing

Deafness

Disturbances of gait and coordination

Fatigue

Intermittent vomiting

Increased skin pigmentation

Progressive dementia

Childhood cerebral form

  • Occurs in ages 4-10

  • Death usually occurs 1-10 years after onset of symptoms

Symptoms


Adult onset form
Adult Onset-form children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • Progressive stiffness

  • Weakness or paralysis of lower limbs

  • ataxia

  • Occurs in ages 21-35

Symptoms


Mild forms of ald
Mild forms of ALD children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • 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


Diagnosis
Diagnosis children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • 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


Treatments
Treatments children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • Adrenal function tested periodically in patients

  • Physical therapy

  • Psycological support

  • Special education

  • Lorenzo’s 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


Research
Research children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • 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


Lorenzo odone
Lorenzo Odone children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • 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 Lorenzo’s 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


Support groups
Support groups children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

  • http://www.aldfoundation.org/

  • http://www.alds.org.au/ald.htm

  • http://www.lifeknowledgepark.org.uk/projects/patientsupport/supportgroup.php


Bibliography

http://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cfmhttp://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cfm

http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

http://www.umm.edu/ency/article/001182.htm

http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001182.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/autorecessive.jpg

http://www.ulf.org/types/xALD/html

http://www.thisislondon.co.uk/showbiz/article-23489187-details/His+parents%27+battle+to+save+him+inspired+the+film+Lorenzo%27s+Oil.+Now+Lorenzo+Odone%27s+sister+writes+movingly+of+a+life+that+taught+her+the+meaning+of+hope.../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/xlinkrecessivemother.jpg

Bibliography


The end

The Endhttp://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cfm