Less than 100 persons globally may be afflicted by this uncommon hereditary condition. At first, you could have trouble walking or feel numb in your arms and legs, but these symptoms could progress to more severe ones.
Giant axonal neuropathy (GAN) is an extremely uncommon genetic condition. It has an impact on your nerve cells. It eventually affects every nerve cell in your body.
At first, you could have trouble walking or feel numb in your arms and legs, but as the condition worsens, you might have breathing problems, seizures, or paralysis.
By the age of five, symptoms typically start to appear in people. Some individuals with a milder type could experience symptoms later in life.
Here are some things to know about GAN, such as potential consequences and symptoms to watch out for.
What is giant axonal neuropathy?
GAN is a hereditary illness. It results in a GAN1 gene mutation. The mutation modifies the way your nerves work. As a result, their communication with your brain and spinal cord, which make up your central nervous system, is altered.
Your peripheral nervous system's nerves can fail due to GAN. The network of nerves that extends from your spinal column and brain is known as the peripheral nervous system.
GAN is a neurodegenerative disease that progresses with age. It follows that things get worse with time. Usually in very young children, it begins.
How does this affect the GAN1 gene?
The natural turnover of filaments found within your nerve cells' axons is disrupted by the malfunctioning of your GAN1 gene. Your nerve cells' messengers are called axons. They interact with the central neurological system of your body.
Normally, the filaments in the axons are broken down and replaced by your body. Your body does not break them down in GAN, though. They gather and enlarge the axon. The nerve stops functioning or sending messages as a result of the swollen axon. Eventually, the nerves can perish.
The inability of your nerve cells to communicate with one another results in issues with movement and sensation.
The larger-than-usual size of the nerve axons gives rise to the moniker GAN.
What are the symptoms of giant axonal neuropathy?
GAN typically manifests itself quite early in infants or kids under the age of five. In contrast to other family members, a child with GAN frequently has extremely tightly curled, kinky, and pale hair. An accumulation of extra keratin could be the cause of the differences in hair.
The symptoms of GAN typically worsen with ageing.
Early signs and symptoms consist of:
- clumsiness
- weakness
- numbness in arms and legs
- slowed mental development
- problems walking
Later on, more severe symptoms may appear, such as:
- loss of coordination
- seizures
- fast back-and-forth movement of the eyes
- paralysis
- difficulty breathing or swallowing
- loss of body control
Most kids eventually need to use a wheelchair, usually between the ages of 10 and 20.
What other health conditions can giant axonal neuropathy lead to?
Other similar disorders that can result from GAN include:
- scoliosis
- visual and hearing problems
- hearing and vision loss
What causes giant axonal neuropathy?
The gene that causes GAN is inherited by people from their parents, who each carry a copy of the gene.
Typically, parents don't exhibit any signs. To develop GAN, you need two copies of the gene because it is recessive.
A gene mutation in GAN results in significantly reduced levels of a certain chemical in your cells. For your nerves to work properly, this substance spontaneously breaks down the protein filaments in your nerves.
The filaments increase the nerve axon if they aren't broken down and replaced. At that point, the nerve gives up.
How is GAN different from ALS?
Here is a brief comparison of GAN and ALS: Both conditions cause nerve death that results in muscle weakness, loss of bodily control or function, and difficulties swallowing or breathing. They are both neurodegenerative, meaning they affect your nervous system and tend to get worse over time. However, they differ in many ways, including their genetic origins and age of onset.
| ALS | GAN | |
|---|---|---|
| Onset | usually ages 55–75 | usually starts by age 5 |
| Outlook | must live 3–5 years after diagnosis | and live to their 20s |
| Risk | mostly with no family history | of genetic link |
How is giant axonal neuropathy managed?
There is currently no treatment for GAN.
However, your medical staff can assist you in controlling your symptoms. Everybody experiences symptoms differently. You and your team can detect and treat them together.
The primary objectives of a healthcare team are to promote healthy living and intellectual and physical growth.
Among the specialists on your team could be:
- neurologists
- physical and occupational therapists
- psychologists
- speech and language pathologists
- orthopaedic surgeons
Life expectancy
GAN is quite uncommon. Less than 50 examples have been the subject of published research by experts. The majority of those survived into their 20s.
Some persons with straight hair and a milder variant experience symptoms later. The symptoms may develop gradually. A milder form may cause less curly hair than straight hair, and symptoms akin to Charcot-Marie-Tooth illness.
What kind of clinical research is happening on GAN?
In 2015, the first human gene therapy study was initiated by researchers.
Gene replacement therapy clinical studies for individuals three years of age and older are still being carried out by researchers as of 2023. The investigation is still going on.
Researchers are attempting to ascertain the safety and efficacy of treatment using different drugs.
Support resources
You might find the following resources useful:
- A charitable organisation called Hannah's Hope Fund raises money for medical research. It also aims to support families and increase awareness of GAN. Families and carers can find a wealth of information and tools on the nonprofit's website.
- A list of patient groups is one of the patient resources provided by the National Institute of Neurological Disorders and Stroke. The institute did not mention any organisations specialised in GAN as of November 2023. It did, however, have entries for patient organisations for a variety of neuropathy kinds, including peripheral neuropathy.
Takeaway
The neurodegenerative disease known as giant axonal neuropathy (GAN) progresses over time. It starts as a genetic mutation that stops your nerve cells from working. Physicians typically identify it in kids no older than five years old.
Clumsiness may be the initial symptom and develop into a lack of control over basic physical processes, such as walking and thinking.
Although there is currently no treatment for GAN, researchers are creating novel treatments that show promise. Your healthcare team can assist you or a loved one in meeting developmental milestones and improving the quality of your life in the interim.
FAQs
How do you test for giant axonal neuropathy?
Measures nerve conduction velocity, a brain MRI, and a peripheral nerve biopsy
Can you live 20 years with neuropathy?
A survival rate of up to 20 years
Is there a cure for giant axonal neuropathy?
Currently, there is no cure or treatment to stop the disorder from progressing.
Can axonal neuropathy be cured?
Usually peripheral neuropathy can't be cured
.jpeg)
0 Comments