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ORPHA:210141

Inherited congenital spastic tetraplegia

low confidenceDisorder

Also known as: Inherited congenital spastic quadriplegia

Publications

2,451

Trials

3

Interventional, condition-specific

Researchers

1,210

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Inherited spastic tetraplegia is a rare, genetic, neurological disease characterized by non-, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, infection). Additional clinical features include , , and . Dysphagia, dysarthria, exotropia, nystagmus, and brain atrophy with ventriculomegaly may be also present.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

inherited congenital spastic quadriplegia · quadriplegic infantile cerebral palsy · spastic quadriplegia · spastic quadriplegic cerebral palsy · spastic tetraplegia cerebral palsy · tetraplegic infantile cerebral palsy

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,451 matched papers (1,235 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

2,451

2,451 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,451 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).

1,235 in the last 10 years · low confidence

Phrase hits: 2,451 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,210

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Ahmad A3 papers · 2025

    University Institute of Physical Therapy, The University of Lahore, Lahore, Pakistan.

    Papers in Europe PMC
  2. 02
    El-Hattab AW3 papers · 2023

    Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

    Papers in Europe PMC
  3. 03
    Garshasbi M3 papers · 2023

    Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran.

    Papers in Europe PMC
  4. 04
    Goulardins JB3 papers · 2025

    Bahiana School of Medicine and Public Health, (Escola Bahiana de Medicina e Saúde Pública) Salvador, Bahia, Brazil.

    Papers in Europe PMC
  5. 05
    Hanif A3 papers · 2025

    Department of Biostatistics, Faculty of Medicine, Sakarya University, Sakarya, Turkey.

    Papers in Europe PMC
  6. 06
    Liu J3 papers · 2026

    Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Reproductive Medicine Center, Changsha Hospital for Maternal & Child Health Care, Hunan Normal University, 416 Chengnan Road, Yuhua District, Changsha, 410007, China. 76903830@qq.com.

    Papers in Europe PMC
  7. 07
    Tariq M3 papers · 2025

    Faculty of Rehabilitation Sciences, Lahore University of Biological and Applied Sciences, Lahore, Pakistan.

    Papers in Europe PMC
  8. 08
    Wang L3 papers · 2026

    Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

    Papers in Europe PMC
  9. 09
    Wang Y3 papers · 2026

    School of Rehabilitation Medicine, Shandong University of Traditional Chinese Medicine, Jinan, Shandong, China.

    Papers in Europe PMC
  10. 10
    Waqas S3 papers · 2025

    University Institute of Physical Therapy, The University of Lahore, Lahore, Pakistan. drshoaibwaqas@gmail.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Inherited congenital spastic tetraplegia" OR "Inherited congenital spastic quadriplegia" OR "quadriplegic infantile cerebral palsy" OR "spastic quadriplegia" OR "spastic quadriplegic cerebral palsy" OR "spastic tetraplegia cerebral palsy" OR "tetraplegic infantile cerebral palsy"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Inherited congenital spastic tetraplegia" OR "Inherited congenital spastic quadriplegia" OR "quadriplegic infantile cerebral palsy" OR "spastic quadriplegia" OR "spastic quadriplegic cerebral palsy" OR "spastic tetraplegia cerebral palsy" OR "tetraplegic infantile cerebral palsy"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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
  • Publication count (2451) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T09:29:42.803Z