Today we are going to talk about a rare condition that many parents have never heard of, but which affects children. It is called `(Infantile Neuroaxonal Dystrophy)` or `(INAD)` for short. Although this name may sound a bit scary, it is very important to know about it. Because if you notice any changes in your little one, you should seek medical advice immediately.
What is `(Infantile Neuroaxonal Dystrophy - INAD)`? Let's understand it simply!
Simply put, `(INAD)` is a very rare, hereditary disease that affects our nervous system. What happens in this is that a type of fat, called `(lipids),` builds up in nerve cells unnecessarily. Think of it like the cables that carry messages in our bodies. When fats build up in these cables, those messages don't travel properly.
What happens then?
This gradually causes the child to lose muscle control , lose vision , have difficulty speaking , and have impaired intellectual development . Most often, these symptoms appear in infancy (before the age of 3). However, sometimes these symptoms can appear a little later, that is, in adolescence.
This is a disease that belongs to the category of `(lipid storage disorder).` That is, a condition that occurs due to the storage of fats in the body. Unfortunately, there is still no complete cure for this life-threatening disease called `(INAD).`
What is `(Lipid storage disorder)`?
Lipid storage disorders are a group of diseases that belong to the category of inherited metabolic disorders. Simply put, they affect our metabolism , the process by which we convert the food we eat into energy and eliminate waste products from our bodies.
Lipids are fatty substances found in our cells, especially in the myelin sheath that covers the nerves in the brain and spinal cord. They are very important for our nervous system . People with a lipid storage disorder have these lipids stored in their bodies instead of being used properly.
Lipid storage disorders like INAD are progressive diseases . That is, as lipids accumulate in the body, the symptoms gradually worsen.
What does the name "Infantile Neuroaxonal Dystrophy" mean?
Understanding the words in this name will help clarify the disease a little more:
- Infantile: `(INAD)` is a condition that is present at birth (`(congenital disease)`). Symptoms usually appear in infancy, before the age of 3 years.
- Neuroaxonal: This disease affects the axons of nerve cells. These axons carry messages from the brain to other parts of the body.
- Dystrophy: ``Dystrophy'' is the medical name for the gradual weakening and wasting of tissues, organs, and muscles.
What are other names for `(INAD)`?
Some doctors also call this disease "Seitelberger's disease," after the doctor who first described the disease in the 1950s. It can also be called `(PLA2G6-associated neurodegeneration)` or `(PLAN)`.
What are the main types of `(INAD)`?
Infantile neuroaxonal dystrophy is the most common form of this disease. Doctors also call it the classic form of INAD. As the name suggests, symptoms begin in infancy.
There is another type, called `(atypical INAD (aNAD))`. In this case, symptoms appear around the age of 4, sometimes even later, in young adulthood. These children may have speech delays , or may appear to have an `(autism spectrum disorder)`. This type of disease is less common.
How common is `(INAD)`?
This is an extremely rare disease , affecting perhaps one in a hundred thousand to two million children.
What is the reason for the formation of `(INAD)`?
Children with `(INAD)` inherit a change (mutation) in the gene `(PLA2G6)` from both parents. This gene helps to make an `(enzyme)` (a type of protein) called `(A2 phospholipase)`. This `(enzyme)` breaks down a type of fat called `(phospholipids)`. When fat metabolism is done properly, nerve cells are healthy.
In children with `(INAD)`, this altered `(PLA2G6)` gene impairs the production and function of that `(enzyme)`. Then, spherical substances called `(spheroid bodies)` start to deposit in the nerves. These are often deposited in the nerve endings that connect to the eyes, muscles, and skin. Also, iron can be deposited in the brain.
Who is at risk of developing `(INAD)`?
Infantile neuroaxonal dystrophy is an autosomal recessive disorder. This means that for a child to develop the disease, both parents must inherit a copy of the mutated PLA2G6 gene. The child's parents are then carriers of the mutated gene, but they will not develop the disease.
Imagine, if both parents are carriers of this mutant gene, each child they have has the following probability:
>
* There is a 1 in 4 chance of having a healthy child without inheriting the mutant gene.
* There is a 1 in 4 chance of being born with the disease `(INAD)`.
* There is a 1 in 2 chance of not having the disease, but being a carrier of the mutated gene.
What are the symptoms of `(INAD)` disease?
In classic INAD, your baby may develop normally from the first 6 months to about 3 years. This means that they will start to sit up, crawl, walk, and talk normally. After that, these learned skills will gradually start to fade . This is often due to muscle wasting. This causes muscle weakness (hypotonia), which is a limp appearance, especially in the trunk. As the disease progresses, muscle stiffness (spasticity) may develop.
Children with INAD may also experience symptoms such as:
- `(Ataxia)` (problems with balance and coordination of movements)
- Difficulty swallowing (dysphagia)
- Hearing impairment
- Inability to hold the head straight, inability to control the head
- Loss of memory and intelligence, which can progress to dementia
- Seizures
- Difficulty speaking due to muscle weakness (dysarthria)
- Other eye problems, such as strabismus, eye twitching (nystagmus), or vision loss
Babies with INAD may also have some specific facial features that are visible at birth:
- Crossed eyes (strabismus)
- Large, low-set ears
- Protruding forehead
- A small nose or chin
How is `(INAD)` disease diagnosed?
If someone in your family has this disease, a prenatal test can find out if the baby has inherited this mutation. A test called Chorionic Villus Sampling (CVS) takes cells from the placenta and checks for the gene mutation.
These are the tests performed on infants, children, and adults:
- A blood test that looks for the mutated `(PLA2G6)` gene. This genetic test can identify 8 out of 10 children with `(INAD).`
- An ``Electroencephalogram - EEG`` test to look for seizures.
- An MRI scan to see changes in the brain.
- Tests such as an electromyogram (EMG) that measures nerve activity.
- A biopsy is a test that takes a small piece of skin or nerve tissue. This is done to check for the presence of spheroid bodies in the axons.
How is Infantile Neuroaxonal Dystrophy (INAD) treated?
Unfortunately, there is no cure for Infantile Neuroaxonal Dystrophy. Current treatments focus on controlling symptoms and helping the child to be as comfortable as possible. These treatments include:
- Anticonvulsants
- A feeding tube (enteral nutrition)
- Medicine to relax tense muscles
- Painkillers
- Physical therapy and correct posture to support the child's head and weak muscles
- Sedatives
What are the newly developed treatments for `(INAD)`?
Medical experts are conducting research and clinical trials to find new ways to stop the spread of this disease and possibly cure it. Treatments currently in development include:
- Enzyme replacement therapy (giving the deficient enzyme externally)
- `(Gene therapy)` (Gene therapy)
Can the disease `(INAD)` be prevented?
If you and your partner both have the gene mutation that causes INAD (that is, if you are both carriers), you can meet with a genetic counselor to talk about ways to prevent it from being passed on to your children. One option is called Preimplantation Genetic Diagnosis (PGD). In this, embryos that are created through IVF (in vitro fertilization) are selected and implanted in the uterus.
What are the future prospects for a child with `(INAD)`?
A baby with `(INAD)` may seem like a very responsive and alert child in the first few years. But as the disease progresses, you may notice that the child's vision, speech, motor skills, and ability to interact with others gradually decline. The disease can also affect the respiratory system . This can lead to respiratory infections such as `(pneumonia)`. Most children with `(INAD)` die before the age of 10 .
Children with the unusual type (aNAD) begin to develop symptoms between the ages of 7 and 12. Although they live longer than children with the typical type (INAD), their lifespan is also shortened.
Caring for a child with such a serious illness is both mentally and physically demanding . You are also at risk of developing problems like stress and depression. So, be sure to ask for help, make time for yourself, and try to find joy in the little things that bring you joy with your family .
When should you see a doctor?
See a doctor if your child has any of these symptoms:
- Problems with balance, movement, or walking
- Difficulty breathing
- Muscle weakness or twitching
- Difficulty speaking or swallowing
- Vision or hearing problems
What questions should you ask your doctor?
It's a good idea to ask your doctor about things like:
- What type of `(INAD)` does my child have?
- What treatments can help?
- What can we do at home to reduce symptoms?
- Who are the medical specialists we should meet with?
- Should the rest of my family be tested for this genetic mutation?
- What complications should I watch out for?
Finally, what to remember (Take-Home Message)
Finding out that your child has an incurable disease like Infantile Neuroaxonal Dystrophy (INAD) is a life-changing event. This lipid storage disorder affects your child's ability to move, see, eat, and speak. While symptoms can be managed and your child can be made comfortable, there is still no cure . However, new research and clinical trials are underway . If you have the mutation that causes INAD (a carrier), talk to your doctor about ways to reduce the risk of passing it on to future generations. Never go it alone, get the help you need .
` INAD, infantile neuroaxonal dystrophy, lipid storage disorder, genetic disorder, rare disease, child health, neurodegeneration, genetic diseases, rare diseases, child health
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