RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:206580

Autosomal recessive lower motor neuron disease with childhood onset

low confidenceDisorder

Also known as: Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4 · dSMA4

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

508

Trials

0

Interventional, condition-specific

Researchers

211

Distinct authors in sample

Gene link

PLEKHG5

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

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.

  1. Gene identifiedPresent

    Strong — PLEKHG5

  2. LiteraturePresent

    508 matched papers (390 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Scoliosis; Gait disturbance; Distal amyotrophy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

16

Associated phenotypes · MONDO:0012608

  • Scoliosis
  • Gait disturbance
  • Distal amyotrophy
  • Difficulty climbing stairs
  • Spinal muscular atrophy

Showing 5 of 16 — 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 2026-07-29

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?

508

508 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.

508 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).

390 in the last 10 years · low confidence

Phrase hits: 27 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Kingsmore S2 papers · 2012
    Papers in Europe PMC
  2. 02
    Li Y2 papers · 2026

    Department of Molecular and Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA.

    Papers in Europe PMC
  3. 03
    Maystadt 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
  4. 04
    Munnich A2 papers · 2007
    Papers in Europe PMC
  5. 05
    Stojkovic T2 papers · 2026

    Filière nationale FILNEMUS, Paris, France.

    Papers in Europe PMC
  6. 06
    Tomaselli 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
  7. 07
    Verellen-Dumoulin C2 papers · 2007
    Papers in Europe PMC
  8. 08
    Viollet L2 papers · 2007
    Papers in Europe PMC
  9. 09
    Wu T2 papers · 2026

    Department of Molecular and Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA.

    Papers in Europe PMC
  10. 10
    Wu 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-30

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 Autosomal recessive lower motor neuron disease with childhood onset — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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") OR (MESH:"Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4") OR ("PLEKHG5" OR "PLEKHG5 syndrome" OR "PLEKHG5-related")

Run this search on Europe PMC

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"

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

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

Ingested 2026-07-27T09:20:47.009Z