Treatable Intellectual Disability

(X-Linked) Adrenoleukodystrophy

DIAGNOSIS

Gene
ABCD1 (X-linked)

Diagnostic Test
Plasma Very Long Chain Fatty Acids

Stacks Image 20

SIGNS & SYMPTOMS

Neurological
Dementia, psychosis/ (manic) depression/anxiety, behavioral disturbances, vision loss, sensorineural hearing loss, white matter abnormalities (MRIscan)

Non-Neurological
Adrenal insufficiency


Stacks Image 21

THERAPY

Treatment
Stemcell Transplantation

Level of Evidence /
Clinical Care
1c / Individual Basis

Treatment Effect
Stabilizes clinical deterioration; improves neurological manifestations

Stacks Image 22

THERAPY

Treatment
Gene Therapy

Level of Evidence /
Clinical Care
5 / Individual Basis

Treatment Effect
Stabilizes clinical deterioration; improves neurological manifestations

Stacks Image 23
Stacks Image 1208

(X-Linked) Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is characterized by progressive demyelinisation of the central nervous system (CNS) (brain and/or spinal cord) and peripheral adrenal insufficiency. The cerebral forms of childhood X-ALD (45% of the cases) affect previously healthy 5 to 12 year-old boys. The first manifestations are moderate cognitive deficits, followed by progressive demyelinisation of the central nervous system, with diminished visual acuity, central deafness, cerebellar ataxia, hemiplegia, convulsions and dementia leading to a neurovegetative state or death within several years. (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.