ORPHA:206580
Autosomal recessive lower motor neuron disease with childhood onset
Also known as: Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4 · dSMA4
Publications
27
29.7th percentile
Trials
0
Interventional, condition-specific
Researchers
211
Distinct authors in sample
Gene link
PLEKHG5
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder with a moderate generalized weakness and slower disease progress was reported.
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:0012608
- MeSH:C567023
- OMIM:611067
- UMLS:C1970211
Additional Mondo synonyms (6)
DSMA4 · autosomal recessive distal spinal muscular atrophy type 4 · autosomal recessive lower motor neuron disease with childhood onset · distal spinal muscular atrophy type 4 · neuronopathy, distal hereditary motor, autosomal recessive 4 · spinal muscular atrophy, distal, autosomal recessive, type 4
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 — PLEKHG5
- LiteraturePresent
27 matched papers (12 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 (PLEKHG5).
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?
27
27 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.
27 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).
12 in the last 10 years · high confidence · 29.7th percentile (publications denominator)
Phrase hits: 27 · MeSH hits: 0
Who's working on it?
211
Distinct author names in 27 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.
- 01Kingsmore S2 papers · 2012Papers in Europe PMC
- 02Li Y2 papers · 2026
Department of Molecular and Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC - 03Maystadt I2 papers · 2007
Centre de Génétique Humaine et Unité de Génétique Médicale, Université Catholique de Louvain, Brussels, Belgium. isabelle.maystadt@ipg.be
Papers in Europe PMC - 04Munnich A2 papers · 2007Papers in Europe PMC
- 05
- 06Tomaselli PJ2 papers · 2026
Department of Neurosciences and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
Papers in Europe PMC - 07Verellen-Dumoulin C2 papers · 2007Papers in Europe PMC
- 08Viollet L2 papers · 2007Papers in Europe PMC
- 09Wu T2 papers · 2026
Department of Molecular and Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC - 10Wu X2 papers · 2026
Department of Molecular and Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA. Electronic address: xiaohwu@scripps.edu.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
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.
None of the matched observational studies is currently listed as 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 on the overview but are not added to the query string.
"Autosomal recessive lower motor neuron disease with childhood onset" OR "Autosomal recessive distal spinal muscular atrophy type 4" OR "Distal spinal muscular atrophy type 4" OR "dSMA4" OR "neuronopathy, distal hereditary motor, autosomal recessive 4" OR "spinal muscular atrophy, distal, autosomal recessive, type 4"
MeSH descriptor terms unioned into the query: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive lower motor neuron disease with childhood onset" OR "Autosomal recessive distal spinal muscular atrophy type 4" OR "Distal spinal muscular atrophy type 4" OR "dSMA4" OR "neuronopathy, distal hereditary motor, autosomal recessive 4" OR "spinal muscular atrophy, distal, autosomal recessive, type 4" OR "Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4" OR "PLEKHG5" OR "neuronopathy, distal hereditary motor, autosomal recessive" OR "hereditary motor neuron disease" OR "distal hereditary motor neuropathy"
Recall-expansion terms: PLEKHG5, neuronopathy, distal hereditary motor, autosomal recessive, hereditary motor neuron disease, distal hereditary motor neuropathy
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T09:20:47.009Z