adult-onset autosomal dominant demyelinating leukodystrophy
Findings
No curated finding names adult-onset autosomal dominant demyelinating leukodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.
Definition from the Mondo Disease Ontology (MONDO:0008215), read 2026-09-29. CC BY 4.0.
Features
63 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Abnormal auditory evoked potentialsHPOHP:0006958
- Frequent (30% to 79% of cases)
- Abnormal cerebellar peduncle morphologyHPOHP:0011931
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormality of somatosensory evoked potentialsHPOHP:0007377
- Frequent (30% to 79% of cases)
- Atrophy of the spinal cordHPOHP:0006827
- Frequent (30% to 79% of cases)
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- Frequent (30% to 79% of cases)
- Autonomic bladder dysfunctionHPOHP:0005341
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
Show the remaining 51
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LMNB1HGNC:6637
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2019
Where it sits
Other names
3 names
Resolves to: adult-onset autosomal dominant demyelinating leukodystrophy
- Also called
- ADLDadult-onset autosomal dominant leukodystrophyleukodystrophy, adult-onset, autosomal dominant