Does your child wobble a little when walking or running? Have you ever felt that he or she has difficulty maintaining balance? Or is it normal to feel very scared and worried when you see such symptoms in a small child? Today we are going to talk about a rare but very important genetic condition that you should be aware of at such times. This is called Friedreich's ataxia, or `(FA)` or `(FRDA)` for short.
What is Friedreich's Ataxia?
Simply put, Friedreich's Ataxia is a genetic condition that is passed down from generation to generation. This causes our nervous system to gradually deteriorate, causing problems with our body's movement. More precisely, the ability to control our muscles decreases. This is what we call ``Ataxia.'' This condition tends to get worse over time.
Most of the time, these symptoms start at a young age. That is, during childhood. But this is not just something that affects the nervous system. It can also affect places like your skeletal system, heart, and pancreas. But the good news is, it does not affect your thinking abilities, that is, your intellectual abilities (Cognitive Functions).
Friedreich's ataxia is one of the most common types of hereditary ataxia, but it is a very rare disease overall. In the United States, it affects about one in every 50,000 people. Worldwide, it affects about one in every 40,000 people. The disease was first discovered and described in 1863 by a doctor named Nicholas Friedreich. That is why it is named after him.
It's normal to feel scared when your child starts to have trouble walking or is losing their balance. You may be wondering, "How long will this go on? How will this affect my child's life?" The best thing to do is to see a doctor who specializes in these conditions. That way, you can get answers to your questions and get the support you need on this journey.
Are there different types of Friedreich's ataxia (FA)?
Yes, the "typical" Friedreich's ataxia usually appears before the age of 25. However, there are two other atypical types. These account for about 15% of all FA cases:
- Late-onset Friedreich's ataxia (LOFA): In this type, symptoms appear after the age of 25.
- Very late-onset Friedreich's ataxia (VLOFA): Here, symptoms begin after the age of 40.
These two types, `(LOFA)` and `(VLOFA)`, are slightly more severe than the normal `(FA)`.
What are the symptoms of this condition?
Symptoms of Friedreich's ataxia usually begin between the ages of 5 and 15. However, some people may experience symptoms as early as 2 years old, and others as late as 50 years old.
First visible symptoms
The first neurological symptoms to appear are difficulty standing, walking, and balance problems (called Gait Ataxia). Over time, these symptoms gradually worsen, and new symptoms may appear.
The main nervous system-related symptoms of `(FA)` are:
- Muscle weakness.
- Loss of balance and coordination (Ataxia).
- Loss of touch sensation (this is called `(Peripheral Neuropathy)`).
- Weakening of reflexes (Hyporeflexia).
You can experience these features here:
- Difficulty standing, walking, and running.
- Chorea is the involuntary shaking and trembling of the limbs.
- A loss of sensation that starts in the legs and spreads to the arms and abdomen.
- Constant fatigue.
- When speaking, words become slurred and speech is slow (Dysarthria).
- Difficulty swallowing food (Dysphagia).
- Spasticity is a feeling of muscle stiffness.
- Loss of sense of one's own body position (Loss of `(Proprioception)`).
- Hearing Loss.
- Vision Loss.
- Scoliosis and/or foot deformities. For example, feet turning inwards, high arches, and short feet (Pes Cavus).
Imagine, there is an 8-year-old child named Sadun. He used to be a good runner and playmate. But for some time now, he has been stumbling when he walks, as if he can't keep his balance. Even when playing at school, he falls when he runs with his friends. At first, his parents thought it was something minor. But it was only when they showed him to a doctor that they came to know about this `(FA)`.
Other complications that can occur due to Friedreich's ataxia (FA)
About 75% of people with FA may develop heart disease. The most common of these are:
Effects on the heart
- Cardiac Autonomic Neuropathy.
- Hypertrophic cardiomyopathy.
- Heartbeat irregularities (Arrhythmia).
In addition, other heart complications that can occur due to `(FA)` include:
- Myocarditis.
- Scarring of the heart muscle (Myocardial Fibrosis).
- Enlargement of the heart (Cardiomegaly).
- Congestive Heart Failure.
- Rapid heartbeat (Tachycardia).
- Atrial fibrillation.
- Heart Block.
Risk of developing diabetes
FA can damage the cells in your pancreas that produce the hormone insulin. Insulin is essential for controlling blood glucose levels. So, when there is not enough insulin, blood sugar levels increase, which causes hyperglycemia. This can lead to diabetes. About 30% of people with FA develop diabetes.
What is the reason for this? Is it a genetic influence?
Yes, Friedreich's ataxia is a completely genetic condition. It is caused by a change, or mutation, in a gene called ``FXN''. This gene carries the code for making a very important protein in our body, ``Frataxin'' .
Frataxin is a protein that functions in mitochondria.
Frataxin is a protein found in mitochondria , the energy-producing parts of our cells. Although scientists still don't fully understand how it works, they have found that frataxin is essential for the normal functioning of mitochondria. The gene mutation that causes frataxin (FA) completely blocks the production of the frataxin protein.
When we don't have enough frataxin, some of our body's cells can't produce energy properly. Also, toxic byproducts start to accumulate. This is called oxidative stress . This damages our cells.
Cells in the following locations are particularly affected by `(FA)`:
- Peripheral Nerves.
- Spinal Cord.
- The brain, especially the cerebellum.
- Heart muscle.
This is an Autosomal Recessive Inheritance Pattern.
Friedreich's ataxia only occurs if you inherit two mutated copies of the (FXN) gene, from both your mother and father. Doctors call this an autosomal recessive inheritance pattern .
Both parents of a person with this disease usually have one copy of the mutated gene (that is, they are carriers ). But they usually do not show symptoms. Imagine, if both parents are carriers, when they have a child:
- There is a 25% chance that the child will have `(FA)` (if both mutant genes are inherited).
- There is a 50% chance that the child will be a carrier (if one mutated gene is inherited).
- There is a 25% chance that the child will be healthy without inheriting any mutated genes.
How do you diagnose this exactly? (Diagnosis)
First, your child's doctor will ask about symptoms and family medical history. Then they will do a complete physical exam and a neurological exam.
Next, your doctor will likely recommend several different tests. Genetic testing is the main test that can confirm Friedreich's ataxia. In addition, other tests may be done to help with the diagnosis and/or to check for areas of the body that may be affected by (FA):
- MRI or CT scan: These can take pictures of your brain and spinal cord. These can help your doctor rule out other neurological conditions.
- Electromyogram (EMG) and Nerve Conduction Studies: These tests assess how your muscles and nerves are working.
- Electrocardiogram (ECG/EKG): This visualizes the electrical activity of your heart, that is, the heartbeat pattern.
- Echocardiogram: This gives pictures of your heart's movements.
- Blood tests: Some blood tests may be done to check things like blood sugar levels and vitamin E levels.
What are the treatments for Friedreich's ataxia (FA)?
This is really good news! In 2023, the US Food and Drug Administration (FDA) approved the first drug specifically for Friedreich's ataxia. It is called Omaveloxolone (SKYCLARYS™) . It can be used in people 16 years of age and older. Studies have shown that this drug can improve nerve function and the condition of ``Ataxia'' to some extent. Further research is being done on the long-term effects of this drug.
However, Omaveloxolone is not a cure for FA. In addition to this medication, the main goal of treatment is to control the symptoms and complications of FA and help you live as well as possible. Such treatments may include:
- Physical Therapy: Maintain muscle function for a long time, improve coordination, balance, and strength.
- Speech Therapy: Improve speech and swallowing by retraining the muscles of the tongue and face.
- Braces or surgery for bone-related problems such as foot deformities and scoliosis.
- If you have heart conditions, take medication for them.
- If you have diabetes, take medicine for it.
- Pain management treatments.
- Antibiotics to prevent or treat infections.
- Devices that assist with walking, for example special shoes, canes, wheelchairs.
- A heart transplant is a treatment for mild FA, but if there is significant cardiomyopathy.
To manage FA, you will often need the help of a multidisciplinary team of doctors. This team may include:
- Neurologists.
- Cardiologists.
- Medical and Biochemical Geneticists.
- Endocrinologists are doctors who specialize in the endocrine system.
- Physical therapists.
- Speech and language pathologists.
- Occupational therapists.
- Orthopedic surgeons.
- Psychologists.
Friedreich's ataxia affects everyone differently and progresses at different rates. Your child's medical team will develop a treatment plan that is tailored to your child's symptoms and can be adjusted as they grow.
Is there a way to prevent this?
Because Friedreich's ataxia is caused by a genetic change, there is nothing you can do to prevent it. However, if you are planning to have children, you can talk to your doctor or a genetic counselor about testing to find out about your risk of having a child with a genetic condition like Friedreich's ataxia.
What is the prognosis for someone with Friedreich's ataxia (FA)?
The most important thing to remember is that not everyone with Friedreich's ataxia is affected the same way. No one can tell you exactly what your prognosis will be. The best thing you can do to prepare for the future is to talk to specialists who research and treat Friedreich's ataxia.
About life span
Because Friedreich's ataxia is a condition that worsens over time, the life expectancy of people with `(FA)` may be slightly shorter than that of the general population. The leading cause of death in people with `(FA)` is a condition called `Hypertrophic Cardiomyopathy`.
But FA does not affect everyone the same. Most people with FA live at least into their 30s. Some live into their 60s or even beyond.
When should you seek medical advice?
If you or your child has Friedreich's ataxia, you should see your medical team regularly for treatment and to monitor symptoms.
It's normal to feel overwhelmed when you learn that your child has Friedreich's Ataxia (FA). But your medical team will develop a treatment plan that is tailored to your child's symptoms. The most important thing is to give your child the love and support they need throughout their life, and to be aware of any new symptoms that may arise. Don't forget to take care of yourself too. If necessary, join a support group, or seek help from a counselor if you're feeling overwhelmed.
Remember as a summary (Take-Home Message)
Friedreich's Ataxia (FA) is a rare, inherited genetic disorder that primarily affects the nervous system, causing movement problems (especially ataxia - loss of balance).
- Cause: A mutation in the gene called ``(FXN)`` results in a decrease in the ``Frataxin`` protein.
- Symptoms: Difficulty walking, loss of balance, muscle weakness, difficulty speaking, heart disease, diabetes, etc. may occur.
- Diagnosis: Mainly by genetic testing.
- Treatment: Symptomatic management, physical therapy, speech therapy, and the newly approved drug Omaveloxolone.
- Important: It is essential to diagnose the disease early, seek the support of a specialist medical team, and have the love and support of family. It is important not to be afraid, but to act on accurate information and medical advice.
` Friedreich's Ataxia, FA, genetic diseases, nervous system, movement disorders, ataxia
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