ORPHA:324442
Autosomal recessive axonal neuropathy with neuromyotonia
Also known as: ARAN-NM · ARCMT2-NM · Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
32
40.6th percentile
Trials
0
Interventional, condition-specific
Researchers
195
Distinct authors in sample
Gene link
HINT1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare peripheral characterized by slowly axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007646
- OMIM:137200
- UMLS:C5700127
Additional Mondo synonyms (2)
Gamstorp-Wohlfart syndrome · autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
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.”
2/6 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.
- Gene identifiedPresent
Definitive — HINT1
- LiteraturePresent
32 matched papers (25 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (HINT1).
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?
32
32 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.
32 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).
25 in the last 10 years · high confidence · 40.6th percentile (publications denominator)
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
195
Distinct author names in 32 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.
- 01Cortés-Montero E5 papers · 2021
Neuropharmacology, Department of Translational Neuroscience, Cajal Institute, CSIC, 28002 Madrid, Spain.
Papers in Europe PMC - 02Rodríguez-Muñoz M5 papers · 2021
Neuropharmacology, Department of Translational Neuroscience, Cajal Institute, CSIC, 28002 Madrid, Spain.
Papers in Europe PMC - 03Sánchez-Blázquez P5 papers · 2021
Neuropharmacology, Department of Translational Neuroscience, Cajal Institute, CSIC, 28002 Madrid, Spain.
Papers in Europe PMC - 04Garzón-Niño J4 papers · 2021
Instituto Cajal, Consejo Superior de Investigaciones Científicas (CSIC), Doctor Arce 37, 28002 Madrid, Spain.
Papers in Europe PMC - 05De Vriendt E3 papers · 2021
VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium.
Papers in Europe PMC - 06Jordanova A3 papers · 2021
VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium.
Papers in Europe PMC - 07Peeters K3 papers · 2021
VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium.
Papers in Europe PMC - 08Amor-Barris S2 papers · 2021
VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium.
Papers in Europe PMC - 09Baets J2 papers · 2014
Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium; Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium.
Papers in Europe PMC - 10Timmerman V2 papers · 2014
Peripheral Neuropathy Group, Molecular Genetics Department, VIB, University of Antwerp, Universiteitsplein 1, Antwerpen B2610, Belgium. vincent.timmerman@molgen.vib-ua.be.
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 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.
See who's working on it — 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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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 axonal neuropathy with neuromyotonia" OR "ARAN-NM" OR "ARCMT2-NM" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" OR "Gamstorp-Wohlfart syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive axonal neuropathy with neuromyotonia" OR "ARAN-NM" OR "ARCMT2-NM" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" OR "Gamstorp-Wohlfart syndrome" OR "HINT1"
Recall-expansion terms: HINT1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T13:36:42.477Z