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🔗 CustomizeMedical Overview of Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Sources citedA rare peripheral neuropathy characterized by slowly progressive 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.
Classification & codes: GARD 0012353 · Orphanet ORPHA:324442 · OMIM 137200 · ICD-10 G60.0
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
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3 open trials match this profile
Locations in NC, FL and GA.
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Care & management overview — Autosomal Recessive Axonal Neuropathy With Neuromyotonia
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Autosomal Recessive Axonal Neuropathy With Neuromyotonia News & Developments
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Companies Developing Treatments
Biopharma companies with registered trials for Autosomal Recessive Axonal Neuropathy With Neuromyotonia — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Mental Health Toolkit
Sources citedCoping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Autosomal Recessive Axonal Neuropathy With Neuromyotonia — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Certified Centers of Excellence
CFF networkCare centers and specialists for Autosomal Recessive Axonal Neuropathy With Neuromyotonia, from Tomeko’s verified provider directory (CMS NPPES).
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Patient & Family Guides
Sources citedAn annual snapshot of Autosomal Recessive Axonal Neuropathy With Neuromyotonia research, treatment access and outcomes, written in plain language for patients and families.
Practical starting points and things to plan for in the first year after diagnosis.
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Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Autosomal Recessive Axonal Neuropathy With Neuromyotonia.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.