Adrenoleukodystrophy physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Adrenoleukodystrophy has numerous phenotypes with various clinical findings. The most aggressive one is Childhood cerebral type which results in behavioural changes, school failure, dementia, speech impairment, bulbar palsy, paralysis and audiovisual changes on examination. Most males in childhood have adrenal insufficiency that can show orthostatic hypotension, hyperpigmentation and confusion. Females who are heterozygous and symptomatic can have sphincter disturbances, incoordination and paraparesis.
Physical Examination
- Changes in muscle tone, especially muscle spasms and spasticity
- strabismus
- aphasia
- Deterioration of handwriting
- Difficulty at school
- Difficulty understanding spoken material
- Hearing loss
- Hyperactivity
- Worsening nervous system deterioration
- Seizures
- Swallowing difficulties
- Visual impairment or blindness
- Difficulty controlling urination
- Possible worsening muscle weakness or leg stiffness
- Problems with thinking speed and visual memory
- Decreased appetite
- Increased skin color (pigmentation)
- Loss of weight, muscle mass (wasting)
- Muscle weakness
- Vomiting