Living with Autosomal recessive axonal neuropathy with neuromyotonia
An inherited nerve condition with muscle weakness, cramps, and muscle stiffness that can begin in childhood.
Understanding Autosomal recessive axonal neuropathy with neuromyotonia
Damage to nerve fibers (axons) causes slowly worsening weakness and wasting of muscles in the feet, legs, and hands. This can lead to an unusual walk, frequent falls, and tight joints in the hands and feet. Overactive nerves can cause muscles to relax slowly, cramps, and rippling under the skin (myokymia). Onset is listed as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness and wasting in feet, legs, and hands
- Unusual way of walking and frequent falls
- Trouble exercising, with weakness that tires easily
- Exercise-induced muscle cramps
- Slow muscle relaxing after a grip (myotonia)
- Rippling under the skin (myokymia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in HINT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Charcot-Marie-Tooth Association and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Charcot-Marie-Tooth Association, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Charcot-Marie-Tooth Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the HINT1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aran-nm; arcmt2-nm; autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia; autosomal recessive neuromyotonia and axonal neuropathy; autosomal recessive neuromyotonia with axonal neuropathy; gamstorp-wohlfart syndrome
Patient organizations
- Charcot-Marie-Tooth AssociationAutosomal recessive axonal neuropathy with neuromyotonia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
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