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spinal muscular atrophy with respiratory distress type 2 - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

spinal muscular atrophy with respiratory distress type 2

MONDO:0018450

Also known as:SMARD2X-linked spinal muscular atrophy with respiratory distressdiaphragmatic spinal muscular atrophy type 2

Overview

Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.

Treatments3 FDA approved, incl. 1 gene therapy

ResearchLimited published research (7 articles)

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 with respiratory distress type 2, 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

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 with respiratory distress type 2.

7 publications have been identified in PubMed for spinal muscular atrophy with respiratory distress type 2. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (14%), and Basic Science / Preclinical (14%).

Recent Publications

Pagliari E (2026). [PMID: 41486111](https://pubmed.ncbi.nlm.nih.gov/41486111/). *J Biomed Sci*. [Gene Therapy / Novel Therapeutics]
Bektaş H (2026). [PMID: 41468720](https://pubmed.ncbi.nlm.nih.gov/41468720/). *Neuromuscul Disord*. [Case Report / Case Series]
Ricardez Hernandez SM (2025). [PMID: 39461706](https://pubmed.ncbi.nlm.nih.gov/39461706/). *Exp Neurol*. [Basic Science / Preclinical]
Zhu J (2024). [PMID: 39170411](https://pubmed.ncbi.nlm.nih.gov/39170411/). *Heliyon*. [Case Report / Case Series]
Leśniak A (2024). [PMID: 39202358](https://pubmed.ncbi.nlm.nih.gov/39202358/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:404521

GARD

Genetic and Rare Diseases Info Center

GARD:21723

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 with respiratory distress type 2?
→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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spinal muscular atrophy with respiratory distress type 2

Overview

Treatment

Approved Therapies

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials