Table 6. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic impairment	By neurologist	Assess for cognitive impairment, progressive spastic gait disturbance, paralysis, ataxia, weakness, & restless legs syndrome. Brain MRI to assess for cerebral disease (Spine MRIs are generally not helpful.) Further services such as mental health, speech, & behavior if appropriate
Sleep disturbance	By neurologist or sleep specialist	Assess for clonus &/or pain
Neurogenic bladder	By urologist	Eval & treatment per standard practice
Bowel incontinence	By gastroenterologist	Eval & treatment of constipation or incontinence per standard practice
Sexual dysfunction	By urologist	Eval & treatment of sexual dysfunction per standard practice
Adrenocortical insufficiency	By endocrinologist	Males: yearly ACTH & cortisol levels
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of X-ALD to facilitate medical & personal decision making To identify male relatives at risk for X-ALD (At-risk males may be identified by use of plasma or serum VLCFA levels or ABCD1 testing. Affected males should be evaluated as recommended in Table 4.)
Family support & resources	Assess need for: Community or online resources; Social work involvement for parental/family support.

System/Concern

Evaluation

Comment

Neurologic impairment

By neurologist

Assess for cognitive impairment, progressive spastic gait disturbance, paralysis, ataxia, weakness, & restless legs syndrome.
Brain MRI to assess for cerebral disease (Spine MRIs are generally not helpful.)
Further services such as mental health, speech, & behavior if appropriate

Sleep disturbance

By neurologist or sleep specialist

Assess for clonus &/or pain

Neurogenic bladder

By urologist

Eval & treatment per standard practice

Bowel incontinence

By gastroenterologist

Eval & treatment of constipation or incontinence per standard practice

Sexual dysfunction

By urologist

Eval & treatment of sexual dysfunction per standard practice

Adrenocortical insufficiency

By endocrinologist

Males: yearly ACTH & cortisol levels

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of X-ALD to facilitate medical & personal decision making
To identify male relatives at risk for X-ALD (At-risk males may be identified by use of plasma or serum VLCFA levels or ABCD1 testing. Affected males should be evaluated as recommended in Table 4.)

Family support
& resources

Assess need for:

Community or online resources;
Social work involvement for parental/family support.

From: X-Linked Adrenoleukodystrophy

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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