adrenoleukodystrophy

info · Genetic · ICD-10: E71.52

A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.

Signs and symptoms

Elevated circulating long chain fatty acid concentration
Hearing impairment
Alopecia
Seizure
Paraparesis
Polyneuropathy
Urinary incontinence
Slurred speech
Neurodegeneration
Lower limb muscle weakness

Medications that may treat it

elivaldogene autotemcel

Also known as: ALD; Bronze Schilder disease; Encephalitis periaxialis concentrica; Encephalitis periaxialis, Schilder's; Siemerling-Creutzfeldt Disease