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rigid spine muscular dystrophy 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Increased endomysial connective tissue, Type 1 muscle fiber predominance, Neck flexor weakness, and Centrally nucleated skeletal muscle fibers and others; and very common findings: Decreased body weight, Facial palsy, Short stature, and Failure to thrive and others. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	13	Flexion contracture, Low muscle tone (hypotonia), Generalized hypotonia
Brain and nerves	3	Spinal rigidity, Intellectual disability, Hypernasal speech
Head and neck	2	Facial palsy, High palate
Growth and development	2	Short stature, Failure to thrive
Lungs and breathing	2	Nocturnal hypoventilation, Restrictive ventilatory defect
Bones and joints	2	Centrally nucleated skeletal muscle fibers, Sideways curvature of the spine (scoliosis)

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 rigid spine muscular dystrophy 1.

15 publications have been identified in PubMed for rigid spine muscular dystrophy 1. Research spans Epidemiology / Natural History (42%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	5	42%
Patient case studies	4	33%
Laboratory research	2	17%
Testing and diagnosis research	1	8%

Recent Publications

Xiao J (2026). [PMID: 41645291](https://pubmed.ncbi.nlm.nih.gov/41645291/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Okal FM (2026). [PMID: 41728585](https://pubmed.ncbi.nlm.nih.gov/41728585/). *Cureus*. [Case Report / Case Series]
Risi B (2025). [PMID: 39980054](https://pubmed.ncbi.nlm.nih.gov/39980054/). *J Med Case Rep*. [Case Report / Case Series]
Dofash LNH (2025). [PMID: 39531736](https://pubmed.ncbi.nlm.nih.gov/39531736/). *Brain*. [Basic Science / Preclinical]
Liu C (2025). [PMID: 39671077](https://pubmed.ncbi.nlm.nih.gov/39671077/). *Inflammation*. [Epidemiology / Natural History]
Barraza-Flores P (2025). [PMID: 40087793](https://pubmed.ncbi.nlm.nih.gov/40087793/). *Skelet Muscle*. [Basic Science / Preclinical]
de Laat ECM (2024). [PMID: 39443859](https://pubmed.ncbi.nlm.nih.gov/39443859/). *BMC Neurol*. [Epidemiology / Natural History]
Liu C (2024). [PMID: 38376705](https://pubmed.ncbi.nlm.nih.gov/38376705/). *Immunol Res*. [Epidemiology / Natural History]
Alwakaa O (2024). [PMID: 40012600](https://pubmed.ncbi.nlm.nih.gov/40012600/). *Brain Circ*. [Case Report / Case Series]
Savani S (2024). [PMID: 39077244](https://pubmed.ncbi.nlm.nih.gov/39077244/). *Cureus*. [Case Report / Case Series]

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rigid spine muscular dystrophy 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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rigid spine muscular dystrophy 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team