A (really really) short introduction

- also known as Schilder's Disease and Sudanophilic Leukodystrophy
- is a rare inherited disorder that leads to progressive brain damage, failure of the adrenal gland and eventually death
- belongs to a group of inherited disorders called Leukodystrophies
- its damages the myelin which insulates many nerves of the central and peripheral nervous systems
- An essential protein, called a transporter protein, is missing in sufferers
- protein is needed to carry an enzyme which is used to break down long chain fatty acids found in our diet
- victims of ALD are nearly always male
- several different types of the disease can be inherited in two different ways
- It is more commonly inherited as an X-linked condition.
- Leukodystrophies are different from demyelinating disorders such as multiple sclerosis where myelin is formed normally but
is lost by immunologic dysfunction or for other reasons

Symptoms

childhood cerebral form

- occurs in males between the ages of 4 and 10
- can also occur in adolescents
- very rarely in adults
- symptoms: failure to develop
- seizures
- ataxia (dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum)
- adrenal insufficiency
- degeneration of visual
- degeneration of auditory function

Another form of ALD- adrenomyeloneuropathy, or "AMN"

- primarily strikes young men
- prominent spinal cord dysfunction
- usually present with weakness and numbness of the limbs
- urination or defecation problems
* Most victims of this form are also males, although some female carriers exhibit symptoms similar to AMN

Adult and neonatal form

- affect both males and females
- inherited in an autosomal recessive manner
- extremely rare
- adrenal insufficiency (Addison's disease)*
- uncontrollable rage ( only in some cases)
* Addison's disease: a rare endocrine disorder in which the adrenal gland produces insufficient amounts of steroid hormones

Diagnosis

-established by clinical findings and detection of serum long chain fatty acid levels
- MRI examination reveals white matter abnormalities
- neuroimaging findings are quite reminiscent of the findings of multiple sclerosis
- Genetic testing for the analysis of the defective gene