IGHMBP2 encodes immunoglobulin mu DNA binding protein 2 (993 aa). 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. Specific to 5'-phosphorylated single-stranded guanine-rich sequences. Highest expression in Testis (48.4 TPM) and Colon Sigmoid (33.5 TPM).

Autosomal recessive distal spinal muscular atrophy 1 is associated with mutations in the IGHMBP2 gene on chromosome 11.

IGHMBP2 is classified as a druggable target (Enzyme and Transcription Factor Binding categories) with score 0.8.

Genetic testing for IGHMBP2 is available. Testing is considered confirmatory for diagnosis.

3 FDA-approved treatments are available for autosomal recessive distal spinal muscular atrophy 1, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020). An additional 1 compound holds orphan drug designation.

Approved Therapies

Orphan Drug Designations

The following drugs have received orphan drug designation from the FDA for autosomal recessive distal spinal muscular atrophy 1. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for autosomal recessive distal spinal muscular atrophy 1 have been reported in the published literature.

Phenotype severity distribution: 2 always present features.

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

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for autosomal recessive distal spinal muscular atrophy 1. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (20%).

Recent Publications

• Bektaş H (2026). [PMID: 41468720](https://pubmed.ncbi.nlm.nih.gov/41468720/). *Neuromuscul Disord*. [Case Report / Case Series]

• Pagliari E (2026). [PMID: 41486111](https://pubmed.ncbi.nlm.nih.gov/41486111/). *J Biomed Sci*. [Gene Therapy / Novel Therapeutics]

• Torres FJL (2025). [PMID: 40909491](https://pubmed.ncbi.nlm.nih.gov/40909491/). *bioRxiv*. [Basic Science / Preclinical]

• Gao S (2025). [PMID: 39815358](https://pubmed.ncbi.nlm.nih.gov/39815358/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Tkemaladze T (2025). [PMID: 40353295](https://pubmed.ncbi.nlm.nih.gov/40353295/). *Am J Med Genet A*. [Case Report / Case Series]

• Sharbafshaaer M (2025). [PMID: 40806770](https://pubmed.ncbi.nlm.nih.gov/40806770/). *Int J Mol Sci*. [Review / Meta-Analysis]

• Yavas C (2025). [PMID: 39705914](https://pubmed.ncbi.nlm.nih.gov/39705914/). *Brain Dev*. [Review / Meta-Analysis]

• Torres FJL (2025). [PMID: 41276031](https://pubmed.ncbi.nlm.nih.gov/41276031/). *Neurobiol Dis*. [Basic Science / Preclinical]

• Wang Y (2025). [PMID: 40686563](https://pubmed.ncbi.nlm.nih.gov/40686563/). *Front Genet*. [Epidemiology / Natural History]

• Ricardez Hernandez SM (2025). [PMID: 39461706](https://pubmed.ncbi.nlm.nih.gov/39461706/). *Exp Neurol*. [Basic Science / Preclinical]