Autosomal recessive axonal neuropathy with neuromyotonia
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Reviewed September 2014
What is autosomal recessive axonal neuropathy with neuromyotonia?
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
Axonal neuropathy, a characteristic feature of this condition, is caused by damage to a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. In people with autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, and hands. Muscle weakness may be especially apparent during exercise (exercise intolerance) and can lead to an unusual walking style (gait), frequent falls, and joint deformities (contractures) in the hands and feet. In some affected individuals, axonal neuropathy also causes decreased sensitivity to touch, heat, or cold, particularly in the lower arms or legs.
Another feature of this condition is neuromyotonia (also known as Isaac syndrome). Neuromyotonia results from overactivation (hyperexcitability) of peripheral nerves, which leads to delayed relaxation of muscles after voluntary tensing (contraction), muscle cramps, and involuntary rippling movement of the muscles (myokymia).
How common is autosomal recessive axonal neuropathy with neuromyotonia?
Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown.
What genes are related to autosomal recessive axonal neuropathy with neuromyotonia?
Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability to carry out a chemical reaction called hydrolysis that breaks down certain molecules; however, it is not known what effects the reaction has in the body.
HINT1 gene mutations that cause autosomal recessive axonal neuropathy with neuromyotonia lead to production of a HINT1 protein with little or no function. Sometimes the abnormal protein is broken down prematurely. Researchers are working to determine how loss of functional HINT1 protein affects the peripheral nerves and leads to the signs and symptoms of this condition.
Read more about the HINT1 gene.
How do people inherit autosomal recessive axonal neuropathy with neuromyotonia?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia?
You might find information on the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about autosomal recessive axonal neuropathy with neuromyotonia?
You may find the following resources about autosomal recessive axonal neuropathy with neuromyotonia helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for autosomal recessive axonal neuropathy with neuromyotonia?
- autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
- autosomal recessive neuromyotonia and axonal neuropathy
- Gamstorp-Wohlfart syndrome
- myokymia, myotonia, and muscle wasting
What if I still have specific questions about autosomal recessive axonal neuropathy with neuromyotonia?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
- What does it mean if a disorder seems to run in my family?
- What are the different ways in which a genetic condition can be inherited?
- If a genetic disorder runs in my family, what are the chances that my children will have the condition?
- Why are some genetic conditions more common in particular ethnic groups?
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding autosomal recessive axonal neuropathy with neuromyotonia?
atrophy ; autosomal ; autosomal recessive ; axons ; cell ; contraction ; gait ; gene ; hydrolysis ;inherited ; involuntary ; joint ; motor ; myotonia ; nervous system ; neuropathy ; peripheral ;peripheral nerves ; peripheral neuropathy ; prevalence ; protein ; recessive ; sensitivity ;sensory cells ; syndrome ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.