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hereditary dementia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary dementia

MONDO:0015547

Also known as:genetic dementia

Overview

An instance of dementia that is caused by an inherited genomic modification in an individual.

OnsetADULT

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.

No HPO annotations are available for this condition.

Age of onset: adulthood.

GeneReviews

Clinical Guidance

DNMT1-related disorder is a degenerative disorder of the central and peripheral nervous systems characterized by sensory impairment, sudomotor dysfunction (loss of sweating), dementia, and sensorineural hearing loss. In some individuals, late-onset narcolepsy/cataplexy syndrome presents as the prominent manifestation along with: ataxia that appears to be cerebellar in nature, deafness, sensory neuropathy, and memory loss . Affected persons are normal in their youth but begin to manifest progressive findings, such as sensorineural hearing loss, sensory neuropathy, and/or narcolepsy/cataplexy, by their late teens or early 20s. In a cohort of 45 affected individuals, the average age of onset was estimated to be 37.

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

The phenotype of DNMT1-related disorder is a continuum ranging from hereditary sensory and autonomic neuropathy type 1E (HSAN1E) to autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN).

Suggestive Findings

DNMT1 disorder should be suspected in individuals with the following clinical, electrophysiologic, and neuroimaging findings and family history.

Clinical findings

Source: GeneReviews — "DNMT1-Related Disorder"

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 hereditary dementia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with DNMT1-related disorder, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

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

GeneReviews

Surveillance Guidelines

Sensory impairment. Examine feet on a daily basis to screen for skin injury. Dementia. Perform annual routine clinical testing for dementia:

Observation of behavior
Use of tools such as the Mini Mental State Exam (MMSE)

Hearing loss. Perform annual audiogram.

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 hereditary dementia.

12 publications have been identified in PubMed for hereditary dementia. Research spans Epidemiology / Natural History (42%), Review / Meta-Analysis (17%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	5	42%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:158124

GARD

Genetic and Rare Diseases Info Center

GARD:20028

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

Kisho

hereditary dementia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

hereditary dementia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications