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

Adrenoleukodystrophy has numerous phenotypes with various clinical findings. Some of the general examination findings which can occur in all phenotypes are listed as following:

Neuromuscular

• Changes in muscle tone, especially muscle spasms and spasticity
• 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
• Difficulty controlling urination
• Possible worsening muscle weakness or leg stiffness
• Problems with thinking speed and visual memory
• Loss of weight, muscle mass (wasting)
• Decreased appetite
• Increased skin color (pigmentation)
• Vomiting

Physical exam findings related to specific phenotype

Phenotypes	Examination Findings
Childhood Cerebral	Behavioural changes Dementia Speech impairment Bulbar palsy Paralysis Audiovisual disturbances
Adrenomyeloneuropathy (AMN)	Paraparesis Sphincter disturbances Sensory changes Incoordination
Addison disease only	Orthostatic hypotension Fever Weakness Hyperpigmentation Seizures Confusion
Mild myelopathy	Increased deep tendon reflexes Sensory disturbances in lower extremities Incoordination Sphincter disturbances