Autosomal dominant leukodystrophy with autonomic disease

Autosomal dominant leukodystrophy with autonomic disease
Other namesAutosomal dominant adult-onset demyelinating leukodystrophy, ADLD, Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant leukodystrophy, Leukodystrophy, demyelinating, adult-onset, autosomal dominant, Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, Multiple sclerosis-like disorder
SpecialtyMedical genetics
SymptomsCognitive deficits, ataxia, and dysfunctions of the autonomic system
ComplicationsWalking difficulties
Usual onsetAdulthood
DurationLifelong
CausesGenetic mutation
Diagnostic methodGenetic testing
Differential diagnosisMultiple sclerosis
Preventionnone
PrognosisBad, but quality of life can be improved with treatment
Frequencyrare, at least 70 people on Earth have been diagnosed with the condition
DeathsInevitable in patients with this condition

Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic origin which is characterized by gradual demyelination of the central nervous system which results in various impairments, including ataxia, mild cognitive disability and autonomic dysfunction. It is part of a group of disorders called "leukodystrophies".