HoughtonlakeBoard.org

TIPS & EXPERT ADVICE ON ESSAYS, PAPERS & COLLEGE APPLICATIONS

Disease condition name: Adrenoleukodystrophy

Also Known As:

We Will Write a Custom Essay Specifically
For You For Only $13.90/page!


order now

Pronounced As: uh-dree-noh-loo-kuh-dis-truh-fee /?h?p ??ta? t?s/

One Line Description: It’s a genetic disorder characterized by damage to nerve
tissue and adrenal gland dysfunction.

Short description:
·        
Causes
Mutation of
ABCD1 gene in the X chromosome
·        
Symptoms:
Visual impairment,
hearing loss, muscle spasms, seizures, crossed eyes, coma, vomiting
·        
Treatment
Dietary therapy,
bone marrow transplant, gene therapy and hormone replacement

Highlights:

 

Fact

 

Sample Value example

Comments

How common
it is

rare

 

 

Common Stats
(US)

1 in 18000

 

 

Is
Treatable

no known
cure.

 

 

Is
Diagnosis required

diagnosed by
medical professional.

 

Is
Lab test or Imaging required

diagnosis
requires lab test or imaging.

 

Time,
it takes to cure

can be
lifelong.
 

 

 

Is
Vaccine Available

no vaccine
available.

 

Does
it spread & how

not known to
be contagious.

 

Age

common for ages 5 and younger,

 

Gender

more common
in males.

 

 

Can
it be fatal/deadly (prognosis)

certain
types can be dangerous or life threatening
if untreated.

 

 

Is
it hereditary

family
history may increase likelihood.

 

 

Does
it need emergency attention

urgent
medical attention recommended.

 

 

Other fact 1-

 

 

 

Other fact 2-

 

 

 

More details  

The X linked trait in Adrenoleukodystrophy(ALD)
is recessive.
Therefore,
it’s common in males because they have only one X chromosome. Females are
mostly carriers of the trait and are mostly asymptomatic or may show few
symptoms of ALD.
There are
three types of adrenoleukodystrophy
·        
Childhood cerebral demyelinating ALD
Occurs mostly in males between 4 and 10 years
·        
Adrenal insufficiency
Occurs later in life in most patients
with ALD.
·        
Adrenomyeloneuropathy
It’s characterized by  progressive neuropathy.

Symptoms: 

Symptoms
of adrenoleukodystrophy vary depending on the tissue affected and age of the
patient.
Classification
depends on type of ALD

Childhood cerebral ALD symptoms

·        
Paralysis
·        
Muscle spasms
·        
Coma
·        
Seizures
·        
Crossed eyes
·        
Hearing loss

Adrenomyeloneuropathy symptoms

·        
Sexual dysfunction
·        
Urinary incontinence
·        
Muscle weakness
·        
Slow thinking

Adrenal gland failure symptoms

·        
Nausea
·        
Coma
·        
Muscle weakness
·        
Poor appetite
·        
Skin pigmentation

Causes: 

Adrenoleukodystrophy
is caused by mutation of ABCD1 gene
found on the X chromosome.
Abnormal ABCD1 gene leads to the formation of ALDP protein that breaks
down long chain fatty acids.
The build-up of fatty
acids in the body leads to
damage to nerve tissues

How it doesn’t
spread:

 

N/A

Diagnosis:

Blood
test to analyze levels of long chain fatty acids
Genetic
testing to determine mutation of the ABCD1 gene

This
is important in identifying carriers of the trait

MRI
for cerebral imaging

Treatments:
Adrenoleukodystrophy isn’t curable. However, several treatment
methods help manage symptoms depending on the type of ALD.
I.    
Medication

·        
Lorenzo’s oil helps to normalize levels of long
chain fatty acids in the body
·        
Cortisol to treat adrenal dysfunction
II.   Surgery / Medical Procedures
Bone marrow transplant was done
at early stages of the disease
III. Self-Care
Diet that is low on fatty acids e.g. whole grain,
vegetables
IV.Therapies
Physical therapy to strengthen muscles and reduce muscle spasms

Prevention

ADL is a disease that is inherited
therefore cannot be prevented.

Food to eat &
Avoid

Foods to eat
·        
Grain and cereals
e.g. whole wheat, bagels, oatmeal
·        
Low -at food such as fruits and
vegetables.
Foods to avoid
·        
High-fat foods e.g. eggs, cheese, nuts,
olive oil, fatty fish

Specialist that one should meet if they have this condition:  

A neurologist

Specializes in neuronal tissues and can be consulted to determine the extent of neuronal damage and treatment.

Endocrinologists

Specializes in endocrine glands and may help in managing adrenal insufficiency

Hematologist

Specializes in blood health and can be consulted on bone marrow
transplant

Complications:

Acute adrenal crisis

Characterized by very low levels of cortisol due to adrenal gland
failure

Questions to ask your Doctor

·        
What
causes ALD?
·        
Is
it hereditary?
·        
Should
I go for genetic testing?
·        
 What dietary changes should I make?
·        
 Are there specialists that I should consult?
·        
Is
it curable?
·        
Is
it preventable?

Post Author: admin

x

Hi!
I'm Irvin!

Would you like to get a custom essay? How about receiving a customized one?

Check it out