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autosomal dominant optic atrophy plus syndrome (DOA+) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant optic atrophy plus syndrome

MONDO:0014720

Also known as:DOA+optic atrophy type 8optic atrophy-deafness-polyneuropathy-myopathy syndrome

Overview

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

OnsetJUVENILE, ADULT

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: adolescence, adulthood.

GeneReviews

Clinical Guidance

Following the initial description of rapid-onset dystonia-parkinsonism (RDP) by prior to knowledge of its genetic cause, the understanding of the scope of ATP1A3-related disorder subsequently expanded to include four historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA)/ fever-induced paroxysmal weakness and encephalopathy (FIPWE); and RDP. The widespread use of exome and genome sequencing (i.e., non-hypothesis-driven molecular genetic testing) led to conceptualize ATP1A3-related disorder as encompassing "a broadly heterogeneous continuum of features" shared among the historical clinically defined phenotypes .

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 consensus diagnostic criteria for ATP1A3-related disorder have been published.

Suggestive Findings

ATP1A3-related disorder should be considered in individuals with features in any of the following four clinical categories .

Clinical category

• Paroxysmal neurologic episodes

Hemiplegic events

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 autosomal dominant optic atrophy plus syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for ATP1A3-related disorder have been published. In the absence of established clinical practice guidelines, the authors offer the recommendations discussed in this section based on their collective experience in working with more than 20 families over more than 15 years.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with ATP1A3-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to 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

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 8. ATP1A3-Related Disorder: Recommended Surveillance

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 autosomal dominant optic atrophy plus syndrome.

173 publications have been identified in PubMed for autosomal dominant optic atrophy plus syndrome. Research spans Review / Meta-Analysis (28%), Basic Science / Preclinical (25%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Research summaries	48	28%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1215

GARD

Genetic and Rare Diseases Info Center

GARD:5243

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

autosomal dominant optic atrophy plus syndrome

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

Alternating Hemiplegia of Childhood

Neurologic

Musculoskeletal/ADL

Speech

Dysphagia/ Feeding difficulty

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

autosomal dominant optic atrophy plus syndrome

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

Alternating Hemiplegia of Childhood

Neurologic

Musculoskeletal/ADL

Speech

Dysphagia/ Feeding difficulty

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications