Overview
Autosomal recessive axonal neuropathy with neuromyotonia is a very rare inherited nerve disorder that affects the peripheral nerves — the nerves that connect the brain and spinal cord to the rest of the body. In this condition, the long cable-like parts of the nerves (called axons) become damaged, which leads to weakness and loss of sensation, especially in the hands and feet. A distinctive feature of this disease is neuromyotonia, which means the nerves become overexcitable and send signals to the muscles even when they should be resting. This causes muscle stiffness, cramping, and visible twitching (called fasciculations) under the skin. Symptoms typically begin in childhood or adolescence and tend to worsen slowly over time. Patients often notice difficulty walking, weakness in the lower legs and feet, and numbness or tingling in the extremities. The muscle stiffness from neuromyotonia can make movements feel rigid and uncomfortable. Some patients may also experience excessive sweating due to nerve involvement. Because this is an autosomal recessive condition, a child must inherit a faulty gene copy from each parent to develop the disease. There is currently no cure for this condition. Treatment focuses on managing symptoms. Medications such as carbamazepine or phenytoin may help reduce the neuromyotonia symptoms by calming overactive nerves. Physical therapy and occupational therapy are important to maintain mobility and function. Supportive devices like braces or orthotics may help with walking difficulties.
Also known as:
Key symptoms:
Muscle stiffness and crampingVisible muscle twitching under the skinWeakness in the hands and feetNumbness or tingling in the arms and legsDifficulty walkingFoot drop (trouble lifting the front of the foot)Loss of muscle bulk in the lower legsReduced reflexesDelayed muscle relaxation after grippingExcessive sweatingDifficulty with fine motor tasks like buttoning clothesFatigue during physical activity
Clinical phenotype terms (47)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive axonal neuropathy with neuromyotonia.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal recessive axonal neuropathy with neuromyotonia.
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Questions for your doctor
Bring these to your next appointment
- Q1.What medications can help reduce my muscle stiffness and cramping, and what are the side effects?,How quickly is this condition likely to progress in my case?,What types of physical therapy are most helpful for this condition?,Should my family members be tested for the HINT1 gene mutation?,Are there any clinical trials or new treatments being studied for this disease?,What assistive devices might help me stay mobile and independent?,How often should I have follow-up appointments and nerve function testing?
Common questions about Autosomal recessive axonal neuropathy with neuromyotonia
What is Autosomal recessive axonal neuropathy with neuromyotonia?
Autosomal recessive axonal neuropathy with neuromyotonia is a very rare inherited nerve disorder that affects the peripheral nerves — the nerves that connect the brain and spinal cord to the rest of the body. In this condition, the long cable-like parts of the nerves (called axons) become damaged, which leads to weakness and loss of sensation, especially in the hands and feet. A distinctive feature of this disease is neuromyotonia, which means the nerves become overexcitable and send signals to the muscles even when they should be resting. This causes muscle stiffness, cramping, and visible tw
How is Autosomal recessive axonal neuropathy with neuromyotonia inherited?
Autosomal recessive axonal neuropathy with neuromyotonia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive axonal neuropathy with neuromyotonia typically begin?
Typical onset of Autosomal recessive axonal neuropathy with neuromyotonia is childhood. Age of onset can vary across affected individuals.
Which specialists treat Autosomal recessive axonal neuropathy with neuromyotonia?
1 specialists and care centers treating Autosomal recessive axonal neuropathy with neuromyotonia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.