ORPHA:209341
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Also known as: DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · SMALED1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,824
Trials
0
Interventional, condition-specific
Researchers
263
Distinct authors in sample
Gene link
DYNC1H1
Definitive
Readiness
3/6
Stages with a signal
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008026
- MeSH:C563560
- OMIM:158600
- UMLS:C5780022
Additional Mondo synonyms (2)
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures · spinal muscular atrophy, lower extremity-predominant 1, AD
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.”
3/6 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
Definitive — DYNC1H1
- LiteraturePresent
1,824 matched papers (1,421 in last 10 years) Source
- Phenotype characterisedPresent
12 HPO annotations (e.g. Global developmental delay; Abnormal foot morphology; Delayed ability to walk) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (DYNC1H1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
12
Associated phenotypes · MONDO:0008026
- Global developmental delay
- Abnormal foot morphology
- Delayed ability to walk
- Somatic sensory dysfunction
- Type 2 muscle fiber predominance
Showing 5 of 12 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-27
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,824
1,824 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=3967) is 59.
1,824 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,421 in the last 10 years · low confidence
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
263
Distinct author names in 32 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.
- 01Becker LL2 papers · 2025
Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Center for Chronically Sick Children, Institute of Cell- and Neurobiology, Berlin, Germany.
Papers in Europe PMC - 02Beggs AH2 papers · 2025
Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.
Papers in Europe PMC - 03Dafsari HS2 papers · 2025
Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Papers in Europe PMC - 04Jeon H2 papers · 2024
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Papers in Europe PMC - 05Lee J2 papers · 2020
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Papers in Europe PMC - 06Liu X2 papers · 2017
Department of Neurology, Peking University Third Hospital, Beijing, China.
Papers in Europe PMC - 07von der Hagen M2 papers · 2025
Department of Neuropediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Maja.Hagenv.der@uniklinikum-dresden.de.
Papers in Europe PMC - 08Wirth B2 papers · 2017
Institute of Human Genetics, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 09Yeung KS2 papers · 2020
Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Papers in Europe PMC - 10Abdin D1 paper · 2020
Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, Technische Universität Dresden, Dresden, Germany.
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 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Broader category autosomal dominant childhood-onset proximal spinal muscular atrophy also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: autosomal dominant childhood-onset proximal spinal muscular atrophy
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Spinal muscular atrophy as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
("DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy" OR "DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" OR "SMALED1" OR "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" OR "spinal muscular atrophy, lower extremity-predominant 1, AD") OR (MESH:"Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant") OR ("DYNC1H1" OR "DYNC1H1 syndrome" OR "DYNC1H1-related")MeSH descriptor terms unioned into the query: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy" OR "DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" OR "SMALED1" OR "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" OR "spinal muscular atrophy, lower extremity-predominant 1, AD" OR "Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal dominant childhood-onset proximal spinal muscular atrophy"
Query health: suspect — strategies attempted: phrase, mesh; 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 (1824) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T02:07:25.057Z