Adrenoleukodystrophy
Alternate Names : Adrenoleukodystrophy, Adrenomyeloneuropathy, Childhood cerebral adrenoleukodystrophy, ALD, Schilder-Addison Complex
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
- Coma
- Decreased fine motor control
- Paralysis
- Seizures
- Swallowing difficulties
- Visual impairment or blindness
Adrenomyelopathy: - 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
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