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ORPHA:2590

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

high confidenceDisorder

Also known as: Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome · SMA-PME

Publications

81

59.2th percentile

Trials

0

Interventional, condition-specific

Researchers

650

Distinct authors in sample

Gene link

ASAH1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Spinal muscular atrophy- myoclonic syndrome is characterized by myoclonus and distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

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 (1)

hereditary myoclonus-progressive distal muscular atrophy syndrome

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ASAH1

  2. LiteraturePresent

    81 matched papers (67 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 trialPartial

    None under the specific name; 166 for broader category spinal muscular atrophy

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 (ASAH1).

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?

81

81 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.

81 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).

67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)

Phrase hits: 81 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

650

Distinct author names in 81 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
    Levade T13 papers · 2026

    Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, and INSERM UMR1037 CRCT, Toulouse 31037 Cedex 1, France.

    Papers in Europe PMC
  2. 02
    Medin JA8 papers · 2024

    Institute of Medical Science, University of Toronto, Toronto, Canada; Departments of Pediatrics and Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.

    Papers in Europe PMC
  3. 03
    Schuchman EH6 papers · 2023

    Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

    Papers in Europe PMC
  4. 04
    Solyom A5 papers · 2022

    Enzyvant Sciences, NY, New York, USA.

    Papers in Europe PMC
  5. 05
    Dyment DA4 papers · 2022

    Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

    Papers in Europe PMC
  6. 06
    Garcia V4 papers · 2019

    Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1037, Toulouse, France.

    Papers in Europe PMC
  7. 07
    He X4 papers · 2023

    Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

    Papers in Europe PMC
  8. 08
    Bennett SAL3 papers · 2022

    Department of BMI, University of Ottawa, Ottawa, Ontario, Canada.

    Papers in Europe PMC
  9. 09
    Bertini E3 papers · 2016

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy. Electronic address: bertini@opbg.net.

    Papers in Europe PMC
  10. 10
    Boycott KM3 papers · 2019

    Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

    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. 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

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.

166 interventional trials matched spinal muscular atrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

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-progressive myoclonic epilepsy syndrome" OR "Hereditary myoclonus-progressive distal muscular atrophy syndrome" OR "Jankovic-Rivera syndrome" OR "SMA-PME"

Run this search on Europe PMC

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

"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome" OR "Hereditary myoclonus-progressive distal muscular atrophy syndrome" OR "Jankovic-Rivera syndrome" OR "SMA-PME" OR "ASAH1"

Recall-expansion terms: ASAH1

Study-type breakdown: 0 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, 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 2026-07-26T20:37:51.079Z