SIGMAR1 function has not been fully characterized.

Autosomal recessive distal spinal muscular atrophy 2 is associated with mutations in the SIGMAR1 gene on chromosome 9.

Genetic testing for SIGMAR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive distal spinal muscular atrophy 2 has been reported in the published literature.

3 FDA-approved treatments are available for autosomal recessive distal spinal muscular atrophy 2, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Gene therapy approaches for autosomal recessive distal spinal muscular atrophy 2 have been reported in the published literature.

Phenotype severity distribution: 7 always present features, 2 common features.

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

No clinical trials have been registered for autosomal recessive distal spinal muscular atrophy 2.

56 publications have been identified in PubMed for autosomal recessive distal spinal muscular atrophy 2. Research spans Case Report / Case Series (22%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (16%).

Recent Publications

• Gaviglio A (2026). [PMID: 40673334](https://pubmed.ncbi.nlm.nih.gov/40673334/). *Crit Rev Clin Lab Sci*. [Review / Meta-Analysis]

• Kannan A (2026). [PMID: 41958916](https://pubmed.ncbi.nlm.nih.gov/41958916/). *Brain Commun*. [Diagnostic / Biomarker]

• Dabaj I (2026). [PMID: 41825231](https://pubmed.ncbi.nlm.nih.gov/41825231/). *Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics*. [Diagnostic / Biomarker]

• Koyutourk B (2026). [PMID: 42065819](https://pubmed.ncbi.nlm.nih.gov/42065819/). *J Community Genet*. [Epidemiology / Natural History]

• Civit A (2026). [PMID: 41230573](https://pubmed.ncbi.nlm.nih.gov/41230573/). *Am J Med Genet A*. [Case Report / Case Series]

• Warmann S (2026). [PMID: 41714394](https://pubmed.ncbi.nlm.nih.gov/41714394/). *Radiologie (Heidelb)*. [Review / Meta-Analysis]

• Yuan J (2026). [PMID: 42081032](https://pubmed.ncbi.nlm.nih.gov/42081032/). *Patient*. [Epidemiology / Natural History]

• Kalita M (2026). [PMID: 41334667](https://pubmed.ncbi.nlm.nih.gov/41334667/). *Neurol Neurochir Pol*. [Review / Meta-Analysis]

• Xi H (2026). [PMID: 41572232](https://pubmed.ncbi.nlm.nih.gov/41572232/). *BMC Neurol*. [Case Report / Case Series]

• Amuran GG (2026). [PMID: 41949145](https://pubmed.ncbi.nlm.nih.gov/41949145/). *Indian J Med Res*. [Diagnostic / Biomarker]