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spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

MONDO:0019132

Overview

Treatments3 FDA approved, incl. 1 gene therapy

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 very common findings: Cataract, Dandy-Walker malformation, Cerebellar vermis hypoplasia, and Enlarged cisterna magna and others.

Organ System	Phenotype Count	Example Features
Eyes	1	Cataract
Muscles

Diagnosis

Biomarker and diagnostic research for spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome has been reported in the published literature.

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.

3 FDA-approved treatments are available for spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved

Prognosis

Phenotype severity distribution: 7 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome.

142 publications have been identified in PubMed for spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome. Kisho has analyzed 88 by research type. Research spans Review / Meta-Analysis (38%), Diagnostic / Biomarker (18%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Research summaries	33

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:73245

GARD

Genetic and Rare Diseases Info Center

GARD:18922

Questions for Your Care Team

→What are the eligibility criteria and monitoring requirements for Zolgensma?
→What are the benefits and potential side effects of SPINRAZA for managing spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome?
→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

spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications