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
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.
Is anyone studying this?
32
32 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=183) is 38.
32 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
28 in the last 10 years · high confidence · 43.2th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 26 July 2026
0
no matched trials for autosomal dominant childhood-onset proximal spinal muscular atrophy, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (DYNC1H1).
GenCC classification: Definitive.
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
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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
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 2026-07-26Likely 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 below 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"
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" OR "DYNC1H1"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C563560 OMIM:158600 UMLS:C5780022
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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