ORPHA:314485
Young adult-onset distal hereditary motor neuropathy
Also known as: Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN · dSMA5
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
Young adult-onset distal motor is a rare distal motor characterized by slowly muscular weakness, and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
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?
28
28 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.
28 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).
16 in the last 10 years · high confidence · 37.2th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
0
no matched trials for distal hereditary motor neuropathy, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (DNAJB2).
GenCC classification: Strong.
Who's working on it?
248
Distinct author names in 28 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.
- 01Iida M2 papers · 2025
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya city, Aichi, 466-8550, Japan.
Papers in Europe PMC - 02Katsuno M2 papers · 2025
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya city, Aichi, 466-8550, Japan. ka2no@med.nagoya-u.ac.jp.
Papers in Europe PMC - 03Magri S2 papers · 2022
Department of Diagnostics and Applied Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Papers in Europe PMC - 04Nakatochi M2 papers · 2025
Department of Nursing, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-ku, Nagoya city, Aichi, 461-8673, Japan.
Papers in Europe PMC - 05Rinaldi C2 papers · 2021
Department of Physiology, Anatomy and Genetics, University of Oxford Oxford, UK.
Papers in Europe PMC - 06Sahashi K2 papers · 2025
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya city, Aichi, 466-8550, Japan.
Papers in Europe PMC - 07Taroni F2 papers · 2022
Department of Diagnostics and Applied Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Papers in Europe PMC - 08Wang F2 papers · 2024
Department of Obstetrics, Affiliated Hospital of Jining Medical University, Jining Medical University, Jining, China.
Papers in Europe PMC - 09Adachi H1 paper · 2019
Department of Neurology, University of Occupational and Environmental Health School of Medicine, 1-1, Iseigaoka, Yahatanichi-ku, Kitakyushu-city, Fukuoka, 807-0804, Japan.
Papers in Europe PMC - 10
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category distal hereditary motor neuropathy also has no matched interventional trial. See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Young adult-onset distal hereditary motor neuropathy" OR "Autosomal recessive distal spinal muscular atrophy type 5" OR "Young adult-onset dHMN" OR "dSMA5" OR "DNAJB2-related CMT2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Young adult-onset distal hereditary motor neuropathy" OR "Autosomal recessive distal spinal muscular atrophy type 5" OR "Young adult-onset dHMN" OR "dSMA5" OR "DNAJB2-related CMT2" OR "DNAJB2" OR "neuronopathy, distal hereditary motor, autosomal recessive" OR "hereditary motor neuron disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:614881 UMLS:C4749918
Query health: suspect — strategies attempted: phrase, recall-expansion; 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