Lorenzo is the son of Michaela and Augusto Odone. He begins to have strange memory problems and blackouts. At age 6, he is diagnosed with the childhood cerebral form of ALD, a progressive degenerative nervous system disorder. There is no cure for this disease and his parents are told he will become totally disabled and die in a few years.
Michaela and Augusto, devastated by Lorenzo's diagnosis, decide to research ALD even though neither has a scientific or medical background. The movie shows the Odones often working at odds with skeptical doctors, scientists, and support groups. Michaela and Augusto spend countless hours in medical libraries reading journal articles and talking to researchers and doctors. After much hard work and some inspiration, they help develop a treatment for ALD made from olive and rapeseed, which they name "Lorenzo's Oil."
The movie also shows Lorenzo becoming completely bedridden and disabled as his disease progresses. At the end of the movie, he is able to communicate by a modified sign language. The story ends on a positive note as several children with ALD who have been treated with Lorenzo's Oil are shown to be healthy. 2. a. Construct a pedigree of the characters.
Grandparent- Parent- Proband
(In the movie, Mariah is another sister of Michaela. But in real life, Mariah is actually James Emmett Murphy II, Michaela’s brother. His identity/character was hidden in the movie probably because of his career as a judge.)
-Male - Female - Male Proband - Female Carrier - Deceased Male
(Unaffected) (Unaffected) (Affected) (Affected) (Unaffected)
b. Provide examples of the case pedigree from your genetic references
c. Provide a description of the condition (1 page)
Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).
Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex
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
1. 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
* Worsening nervous system deterioration
* Decreased fine motor control
* Swallowing difficulties
* Visual impairment or blindness
* Difficulty controlling urination
* Possible worsening muscle weakness or leg stiffness
* Problems with thinking speed and visual memory
3. Adrenal gland failure...