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leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

MONDO:0700295

Overview

GeneticsAutosomal dominant

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Ataxia, Leukodystrophy, and Autonomic bladder dysfunction; and common findings: Autonomic erectile dysfunction, Constipation, and Orthostatic hypotension due to autonomic dysfunction. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Ataxia, Decreased sweating due to autonomic dysfunction, Depression

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No formal diagnostic criteria exist.

Suggestive Findings

LMNB1-related autosomal dominant leukodystrophy (ADLD) should be suspected in adults with the following clinical, neuroimaging, and family history findings:

Clinical features

Onset in the fourth to fifth decade of signs and symptoms of autonomic dysfunction including bladder dysfunction, constipation, erectile dysfunction, and postural hypotension

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for LMNB1-related autosomal dominant leukodystrophy (ADLD) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LMNB1-related ADLD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with LMNB1-related Autosomal Dominant Leukodystrophy (ADLD)

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Recommended surveillance:

Routine assessment of weight, nutrition, and feeding; pulmonary status (re possible recurrent pneumonia); bladder and erectile function; psychosocial well-being; and medications and dosage to avoid iatrogenic polypharmacy
At least annual assessment by multidisciplinary specialists including a neurologist for disease manifestations and progression; and by a physiatrist, orthopedist, physical therapist, and occupational therapist to address orthopedic, equipment, and functional needs

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical.

5 publications have been identified in PubMed for leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Jiang Y (2025). [PMID: 40046440](https://pubmed.ncbi.nlm.nih.gov/40046440/). *Front Neurosci*. [Case Report / Case Series]
Vollmer LL (2025). [PMID: 40025114](https://pubmed.ncbi.nlm.nih.gov/40025114/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]
Nmezi B (2025). [PMID: 39910058](https://pubmed.ncbi.nlm.nih.gov/39910058/). *Nat Commun*. [Basic Science / Preclinical]
Dimartino P (2024). [PMID: 39078102](https://pubmed.ncbi.nlm.nih.gov/39078102/). *Ann Neurol*. [Basic Science / Preclinical]
Bettinger CM (2024). [PMID: 39274327](https://pubmed.ncbi.nlm.nih.gov/39274327/). *J Clin Med*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:169500

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

System/Concern	Evaluation	Comment
Neurologic	Neurologist	For evidence of autonomic dysfunction (e.g., orthostatic hypotension), abnormal tone, /or tremor Urogenital
dysfunction	Urologic eval	For urinary dysfunction, recurrent urinary tract infection, erectile dysfunction
Bowel dysfunction	Gastroenterology assessment	Upper motor
neuron dysfunction	Assessment by rehab specialists	To incl equipment needs
Cognitive function	Neuropsychological assessment	Jaw tremor
pseudobulbar palsy	Eval of chewing, speech, swallowing	—
Hearing loss	Audiologic assessment	—
Genetic counseling	By genetics professionals1	To inform patients their families re nature, MOI, implications of ADLD in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with LMNB1-related Autosomal Dominant Leukodystrophy (ADLD) Manifestation/Concern	Treatment	Considerations/Other
Constipation	Good hydration dietary fiber	Stool softeners (e.g., docusate) or a laxative may be needed. Orthostatic hypotension
Erectile dysfunction	Medical treatment w/sildenafil	—
Anhidrosis	Avoid overheating.	Can use cooling vests, fans, air conditioning; Intensive mgmt of infections should incl adequate antipyretic treatment.
Feeding difficulties assoc w/pseudobulbar palsy	Speech therapy appropriate feeding interventions to assure adequate nutrition while preventing aspiration pneumonia	Work w/social worker financial planner to help anticipate issues of guardianship that may accompany progressive decline.; Family patient support/advocacy groups to help address progressive psychosocial consequences of ADLD

Kisho

leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Acquired Demyelinating Disorders

Clinical Guidance

Therapies Under Investigation

Clinical Trials

leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Acquired Demyelinating Disorders

Clinical Guidance

Therapies Under Investigation

Clinical Trials