Catalog

X-linked adrenoleukodystrophy

No MMS code

Link to WHO Definition

X-linked adrenoleukodystrophy – http://id.who.int/icd/entity/485676510

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease characterised by progressive demyelinisation of the central nervous system (CNS) (brain and/or spinal cord) and peripheral adrenal insufficiency. The cerebral forms of juvenile X-ALD (45% of the cases) affect previously healthy 5 to 12 year-old boys. The adult form, adrenomyeloneuropathy (AMN), is characterised by the onset of spastic paraparesia between 20 and 45 years of age, associated with gait disturbances, urinary disorders and sexual dysfunction.