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spinal muscular atrophy, distal, autosomal recessive, 6 (DSMA6) - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

spinal muscular atrophy, distal, autosomal recessive, 6

MONDO:0859279

Also known as:DSMA6

Overview

GeneticsAutosomal recessive · REEP1 (chr 2)

OnsetCONGENITAL, INFANTILE

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 always present findings: Peripheral axonal neuropathy, Arthrogryposis-like hand anomaly, Low muscle tone (hypotonia), and Distal muscle weakness and others.

Organ System	Phenotype Count	Example Features
Muscles	8	Arthrogryposis-like hand anomaly, Low muscle tone (hypotonia), Distal muscle weakness

Genetic Landscape

REEP1 function has not been fully characterized.

Spinal muscular atrophy, distal, autosomal recessive, 6 is associated with mutations in the REEP1 gene on chromosome 2.

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.

Genetic testing for REEP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinal muscular atrophy, distal, autosomal recessive, 6 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, distal, autosomal recessive, 6, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Phenotype severity distribution: 25 always present features.

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, distal, autosomal recessive, 6.

20 publications have been identified in PubMed for spinal muscular atrophy, distal, autosomal recessive, 6. Research spans Epidemiology / Natural History (25%), Case Report / Case Series (20%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	5	25%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620011

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, distal, autosomal recessive, 6?
→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

spinal muscular atrophy, distal, autosomal recessive, 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

spinal muscular atrophy, distal, autosomal recessive, 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications