Giant axonal neuropathy

Giant axonal neuropathy (GAN) is a rare inherited disorder that affects the peripheral and central nervous system. The peripheral nervous system sends signals that control movement and sensation between the central nervous system (the brain and spinal cord) and all other parts of the body. GAN happens when the GAN1 gene is changed and causes the axons, or the message sender of the nerve cell, to become larger than normal and not function properly. After some time, these axons will break down and affect movement and feeling because the nerve cells can't talk to each other.

GAN is progressive, meaning that is continues to worsen over time. Most children will begin showing signs of GAN before five years of age. Most children will need to use a wheelchair in the second decade of life, and some may survive into early adulthood. Currently there is no cure or treatment to stop the disorder from progressing.

Symptoms include:

• Clumsiness and muscle weakness, often the first signs of the disorder
• Problems with walking in the early stages of the disorder
• Lack of feeling in the arms and legs
• Loss of control of body movement
• Seizures
• Fast back and forth movement of the eyes
• Slowed mental development and gradual decline of mental function
• Tightly curled hair that is very different from the the type and color of the parents' hair

How can I or my loved one help improve care for people with giant axonal neuropathy?

Consider participating in a clinical trial so clinicians and scientists can learn more about GAN and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with GAN at Clinicaltrials.gov.

Where can I find more information about giant axonal neuropathy?

Information about GAN may be available from the following resources:

Genetics and Rare Diseases (GARD) Information Center

MedlinePlus

National Organization of Rare Disorders (NORD)

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/giant-axonal-neuropathy Accessed June 23, 2023.

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