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ORPHA:98920

Spinal muscular atrophy with respiratory distress type 1

low confidenceDisorder

Also known as: Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress · Diaphragmatic spinal muscular atrophy · Distal hereditary motor neuropathy type 6 · Distal-HMN type 6 · SIANRF · SMARD1 · Severe infantile axonal neuropathy with respiratory failure type 1 · dHMN6 · dSMA1

Publications

734

Trials

1

Interventional, condition-specific

Researchers

1,381

Distinct authors in sample

Gene link

IGHMBP2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as , symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

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 (13)

DSMA1 · IGHMBP2 spinal muscular atrophy · Spinal Muscular Atrophy with Respiratory Distress · autosomal recessive distal spinal muscular atrophy 1 · autosomal recessive distal spinal muscular atrophy type 1 · autosomal recessive spinal muscular atrophy with respiratory distress · diaphragmatic spinal muscular atrophy · distal hereditary motor neuropathy type 6 · distal-HMN type 6 · severe infantile axonal neuropathy with respiratory failure type 1 · spinal muscular atrophy caused by mutation in IGHMBP2 · spinal muscular atrophy with respiratory distress type 1 · spinal muscular atrophy, distal, autosomal recessive, type 1

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

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

  1. Gene identifiedPresent

    Definitive — IGHMBP2

  2. LiteraturePresent

    734 matched papers (510 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

    1 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?

Yes — we know a specific gene responsible (IGHMBP2).

GenCC classification: Definitive.

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?

734

734 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.

734 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).

510 in the last 10 years · low confidence

Phrase hits: 734 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,381

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
    Lorson CL13 papers · 2026

    Department of Veterinary Pathobiology, College of Veterinary Medicine, and.

    Papers in Europe PMC
  2. 02
    Corti S10 papers · 2022

    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Ospedale Maggiore Policlinico, Italy.

    Papers in Europe PMC
  3. 03
    Hübner C10 papers · 2012
    Papers in Europe PMC
  4. 04
    Nizzardo M9 papers · 2026

    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

    Papers in Europe PMC
  5. 05
    Bresolin N8 papers · 2022

    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

    Papers in Europe PMC
  6. 06
    Comi GP8 papers · 2026

    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

    Papers in Europe PMC
  7. 07
    Jablonka S8 papers · 2024

    Institute for Clinical Neurobiology; University of Wuerzburg; Wuerzburg, Germany.

    Papers in Europe PMC
  8. 08
    Schuelke M8 papers · 2015

    Departments of Neuropediatrics (G.S., D.S., F.S., S.M.-G., E.G., M.S.) and Neuropediatrics/SPZ (K.v.A.), NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Berlin, Germany; the Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, Germany; and the DRK Children's Hospital Berlin (A.v.M.), Germany.

    Papers in Europe PMC
  9. 09
    Varon R8 papers · 2012
    Papers in Europe PMC
  10. 10
    Grohmann K7 papers · 2005

    Department of Neuropediatrics, Charité, Campus Virchow-Klinikum, Humboldt University, 13353 Berlin, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 166 trials are registered for spinal muscular atrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: spinal muscular atrophy

166

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

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

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.

"Spinal muscular atrophy with respiratory distress type 1" OR "Autosomal recessive distal spinal muscular atrophy type 1" OR "Autosomal recessive spinal muscular atrophy with respiratory distress" OR "Diaphragmatic spinal muscular atrophy" OR "Distal hereditary motor neuropathy type 6" OR "Distal-HMN type 6" OR "SIANRF" OR "SMARD1" OR "Severe infantile axonal neuropathy with respiratory failure type 1" OR "dHMN6" OR "dSMA1" OR "IGHMBP2 spinal muscular atrophy" OR "Spinal Muscular Atrophy with Respiratory Distress" OR "autosomal recessive distal spinal muscular atrophy 1" OR "spinal muscular atrophy caused by mutation in IGHMBP2" OR "spinal muscular atrophy, distal, autosomal recessive, type 1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinal muscular atrophy with respiratory distress 1

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

"Spinal muscular atrophy with respiratory distress type 1" OR "Autosomal recessive distal spinal muscular atrophy type 1" OR "Autosomal recessive spinal muscular atrophy with respiratory distress" OR "Diaphragmatic spinal muscular atrophy" OR "Distal hereditary motor neuropathy type 6" OR "Distal-HMN type 6" OR "SIANRF" OR "SMARD1" OR "Severe infantile axonal neuropathy with respiratory failure type 1" OR "dHMN6" OR "dSMA1" OR "IGHMBP2 spinal muscular atrophy" OR "Spinal Muscular Atrophy with Respiratory Distress" OR "autosomal recessive distal spinal muscular atrophy 1" OR "spinal muscular atrophy caused by mutation in IGHMBP2" OR "spinal muscular atrophy, distal, autosomal recessive, type 1" OR "Spinal muscular atrophy with respiratory distress 1" OR "IGHMBP2"

Recall-expansion terms: IGHMBP2

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"spinal muscular atrophy"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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

Ingested 2026-07-27T05:44:17.218Z