ORPHA:276435
Lower motor neuron syndrome with late-adult onset
Also known as: LOSMoN · Late-onset spinal motor neuronopathy · SMAJ · Spinal muscular atrophy, Jokela type
Clinical definition (Orphanet)
A rare, genetic, motor neuron disease characterized by slowly , predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.
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?
49
49 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.
49 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).
38 in the last 10 years · medium confidence · 50.3th percentile (publications denominator)
Is a treatment being tested?
5
trials for this specific condition
5 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 26 July 2026
5 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 82.7th percentile).
medium confidence · 82.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CHCHD10).
GenCC classification: Strong.
Who's working on it?
304
Distinct author names in 49 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.
- 01Jokela M8 papers · 2025
Division of Clinical Neurosciences, Turku University Hospital and University of Turku, Turku, Finland.
Papers in Europe PMC - 02Tyynismaa H6 papers · 2025
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Papers in Europe PMC - 03Udd B6 papers · 2018
Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland.
Papers in Europe PMC - 04Ylikallio E6 papers · 2025
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Papers in Europe PMC - 05Auranen M5 papers · 2023
Clinical Neurosciences, Neurology, Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 06Penttilä S5 papers · 2016
Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland.
Papers in Europe PMC - 07Paquis-Flucklinger V4 papers · 2023
Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, CHU de Nice, Nice, France.
Papers in Europe PMC - 08Saukkonen AM4 papers · 2022
Department of Neurology, Central Hospital of Northern Karelia, Joensuu, Finland.
Papers in Europe PMC - 09Traynor BJ4 papers · 2023
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Brain Sciences Institute, Johns Hopkins Hospital, Baltimore, MD, USA.
Papers in Europe PMC - 10Bannwarth S3 papers · 2021
Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, CHU de Nice, Nice, France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
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.
"Lower motor neuron syndrome with late-adult onset" OR "LOSMoN" OR "Late-onset spinal motor neuronopathy" OR "Spinal muscular atrophy, Jokela type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lower motor neuron syndrome with late-adult onset" OR "LOSMoN" OR "Late-onset spinal motor neuronopathy" OR "Spinal muscular atrophy, Jokela type" OR "CHCHD10"
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: 5 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:615048 UMLS:C3554398
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SMAJ
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus