Autosomal recessive axonal neuropathy with neuromyotonia

From WikiMD's Medical Encyclopedia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's weight loss doctor NYC
Philadelphia GLP-1 weight loss and GLP-1 clinic NYC

Autosomal recessive axonal neuropathy with neuromyotonia
Synonyms ARAN-NMT
Pronounce N/A
Specialty Neurology
Symptoms Muscle weakness, muscle cramps, neuromyotonia, sensory loss
Complications N/A
Onset Childhood or adolescence
Duration Lifelong
Types N/A
Causes Mutations in the HINT1 gene
Risks Family history of the condition
Diagnosis Genetic testing, nerve conduction study, electromyography
Differential diagnosis Charcot-Marie-Tooth disease, Isaacs' syndrome
Prevention N/A
Treatment Symptomatic treatment, physical therapy, anticonvulsants
Medication N/A
Prognosis Variable, depending on severity
Frequency Rare
Deaths N/A


Alternate names

Gamstorp-Wohlfart Syndrome; Myokymia, Myotonia, And Muscle Wasting; ARAN-NM; ARCMT2-NM; Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; NMAN

Definition

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.

Epidemiology

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.

Cause

  • Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene.
  • 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.

Gene mutations

  • 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.

Inheritance

This condition is inherited in an autosomal recessive pattern.

Signs and symptoms

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).

Diagnosis

Treatment

NIH genetic and rare disease info

Autosomal recessive axonal neuropathy with neuromyotonia is a rare disease.

Rare and genetic diseases

Rare diseases - Autosomal recessive axonal neuropathy with neuromyotonia

A-Z list of rare diseases
* 0-9 | A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see
Resources


Resources

Message
No content specified


Additional resources

Autosomal recessive axonal neuropathy with neuromyotonia

About WikiMD
WikiMD is the world's largest, free medical and wellness encyclopedia with a focus on patient education.


Stub icon
   This article is a Autosomal recessive axonal neuropathy with neuromyotonia stub. You can help WikiMD by expanding it!






<html><link rel="canonical" href="https://wikimd.com/wiki/Autosomal+recessive+axonal+neuropathy+with+neuromyotonia">‎ <meta name=”viewport” content=”width=device-width, initial-scale=1″> </html>

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Ad. Transform your health with W8MD Weight Loss, Sleep & MedSpa

W8MD's happy loser(weight)

Tired of being overweight?

Special offer:

Budget GLP-1 weight loss medications

  • Semaglutide starting from $29.99/week and up with insurance for visit of $59.99 and up per week self pay.
  • Tirzepatide starting from $45.00/week and up (dose dependent) or $69.99/week and up self pay

✔ Same-week appointments, evenings & weekends

Learn more:

Advertise on WikiMD

WikiMD Medical Encyclopedia

Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.org/index.php?title=Autosomal_recessive_axonal_neuropathy_with_neuromyotonia&oldid=6545365"