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rigid spine syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

rigid spine syndrome

MONDO:0019951

Also known as:rigid spine congenital muscular dystrophydesmin-related myopathies with Mallory bodiesmuscular dystrophy, congenital, merosin positive with early spine rigidity

Overview

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

ResearchLimited published research (8 articles)

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 very common findings: Neck muscle weakness, Generalized hypotonia, Difficulty breathing (respiratory insufficiency), and Sideways curvature of the spine (scoliosis) and others; and common findings: Hyporeflexia, Pneumonia, Poor head control, and Elbow flexion contracture and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Neck muscle weakness, Generalized hypotonia, Myopathy

Prognosis

Phenotype severity distribution: 7 very common features, 10 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 syndrome.

8 publications have been identified in PubMed for rigid spine syndrome. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Review / Meta-Analysis (13%).

Recent Publications

Dofash LNH (2025). [PMID: 39531736](https://pubmed.ncbi.nlm.nih.gov/39531736/). *Brain : a journal of neurology*. [Gene Therapy / Novel Therapeutics]
Finch M (2025). [PMID: 40388931](https://pubmed.ncbi.nlm.nih.gov/40388931/). *Journal of child neurology*. [Case Report / Case Series]
Dofash LNH (2025). [PMID: 40581737](https://pubmed.ncbi.nlm.nih.gov/40581737/). *Human molecular genetics*. [Basic Science / Preclinical]
Risi B (2025). [PMID: 39980054](https://pubmed.ncbi.nlm.nih.gov/39980054/). *Journal of medical case reports*. [Case Report / Case Series]
Harikrishna GV (2024). [PMID: 38968056](https://pubmed.ncbi.nlm.nih.gov/38968056/). *Journal of neuromuscular diseases*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:97244

GARD

Genetic and Rare Diseases Info Center

GARD:4723

Questions for Your Care Team

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rigid spine syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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