ORPHA:97244
Rigid spine syndrome
Also known as: Rigid spine congenital muscular dystrophy
Publications
303
62.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,285
Distinct authors in sample
Gene link
HMGCS1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Rigid spine syndrome (RSS) is a slowly childhood-onset muscular characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and respiratory insufficiency.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (1)
rigid spine congenital muscular dystrophy
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — HMGCS1
- LiteraturePresent
303 matched papers (79 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (HMGCS1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
303
303 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
303 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
79 in the last 10 years · high confidence · 62.4th percentile (publications denominator)
Phrase hits: 303 · MeSH hits: 4
Who's working on it?
1,285
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Merlini L9 papers · 2015
Muscle Clinic, Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 02Muntoni F7 papers · 2020
Dubowitz Neuromuscular Centre, University College London, Institute of Child Health, London, UK.
Papers in Europe PMC - 03Nishino I7 papers · 2026
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Papers in Europe PMC - 04Richard P7 papers · 2025
AP-HP, Groupe Hospitalier La Pitié-Salpôtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, F-75013, Paris, France.
Papers in Europe PMC - 05Schoser B7 papers · 2024
From the Emory Genetics Laboratory (Y.X.), Division of Medical Genetics (W.R.W.), Department of Human Genetics, Emory University, Atlanta, GA; Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität, München, Germany (B.S.); Department of Human Genetics, UCLA School of Medicine, CA (A.R.R., S.F.N.); Instituto de Genetica Medica, Hospital Italiano, Montevideo, Uruguay (R.Q., A.V.); Institute of Human Genetics, Medical University of Graz (V.R., C.B., C.W.); and Department for Mathematics and Scientific Computing, Karl-Franzens-University Graz, Graz, Austria (G.S.-T.).
Papers in Europe PMC - 06Quijano-Roy S6 papers · 2025
APHP-Université Paris-Saclay, Reference Center for Neuromuscular Disorders Nord-Est-Ile de France, FILNEMUS, ERN-Euro-NMD, Creteil, France; Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches, France.
Papers in Europe PMC - 07Stojkovic T6 papers · 2026
Sorbonne Universités,UPMCUniv Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, F-75013 Paris, France.
Papers in Europe PMC - 08Stübgen JP6 papers · 2008
Department of Neurology, Weill Medical College, Cornell University, New York, NY 10021, USA.
Papers in Europe PMC - 09Ferreiro A5 papers · 2024
Basic and Translational Myology Laboratory, Université Paris, BFA, UMR 8251, CNRS, 75013 Paris, France; APHP, Reference Center for Neuromuscular Disorders Nord-Est-Ile de France, Neuromyology Department, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. Electronic address: ana.b.ferreiro@gmail.com.
Papers in Europe PMC - 10Malfatti E5 papers · 2026
Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Rigid spine syndrome" OR "Rigid spine congenital muscular dystrophy"
MeSH descriptor terms unioned into the query: Rigid spine syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rigid spine syndrome" OR "Rigid spine congenital muscular dystrophy" OR "HMGCS1"
Recall-expansion terms: HMGCS1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:04:00.854Z