Adrenoleukodystrophy: Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

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
* Hyperactivity
* Worsening nervous system deterioration
o Coma
o Decreased fine motor control
o Paralysis
* Seizures
* Swallowing difficulties
* Visual impairment or blindness


* Difficulty controlling urination
* Possible worsening muscle weakness or leg stiffness
* Problems with thinking speed and visual memory

Adrenal gland failure (Addison type):

* Coma
* Decreased appetite
* Increased skin color (pigmentation)
* Loss of weight, muscle mass (wasting)
* Muscle weakness
* Vomiting

Diagnosis & Tests

* Blood levels
* Chromosome study to look for changes (mutations) in the ABCD1 gene
* MRI of the head

Adrenoleukodystrophy: Overview, Causes

Adrenoleukodystrophy: Symptoms & Signs, Diagnosis & Tests

Adrenoleukodystrophy: Treatment

Review Date : 11/2/2009
Reviewed By : Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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