Spasticity in MS
What is Ataxia, and why does it affect folks with multiple sclerosis?
Check out another brilliant video from Dulci Hill on multiple sclerosis. Please check out her videos below!
We have covered the area of ataxia before. Please have a look at it here.
Remember the following information: Ataxia is a movement disorder caused by damage to the cerebellum. This condition can lead to symptoms like poor movement coordination, jerky movements, slurred speech, involuntary rapid eye movement, difficulty in writing, picking up small objects, and an unsteady gait. Please watch the video to learn exercises for ataxia.
Multiple sclerosis awareness
Ataxia is a term for a group of disorders that affect coordination, balance and speech.
Any part of the body can be affected, but people with ataxia often have difficulties with:
balance and walking
speaking
swallowing
tasks that require a high degree of control, such as writing and eating
vision
The exact symptoms and their severity vary depending on the type of ataxia a person has.
There are various types of ataxia, which can be categorized into three main groups:
1. Acquired ataxia: Symptoms develop as a result of trauma, stroke, multiple sclerosis (MS), brain tumor, nutritional deficiencies, or other conditions that damage the brain or nervous system.
2. Hereditary ataxia: Symptoms develop gradually over many years and are caused by genetic mutations inherited from parents. The most common type is Friedreich’s ataxia.
3. Idiopathic late-onset cerebellar ataxia (ILOCA): The brain is progressively damaged over time for reasons that are unclear.
Ataxia usually results from damage to a part of the brain called the cerebellum, but it can also be caused by damage to other parts of the nervous system. This damage can be part of an underlying condition such as multiple sclerosis (MS), or it can be caused by a head injury, lack of oxygen to the brain, or long-term, excessive alcohol consumption. Hereditary ataxia is caused by a faulty gene passed on by family members, who may or may not be affected.
Read more about the causes of ataxia.
In many cases, there is no cure for ataxia, so supportive treatment to manage the symptoms is essential. This may involve:
– Speech and language therapy to address speech and swallowing difficulties
– Physiotherapy to assist with movement issues
– Occupational therapy to help manage daily challenges
– Medication to regulate muscle, bladder, heart, and eye issues
In a few cases, treating the underlying cause can improve ataxia or prevent its worsening.
Read more about treating ataxia.
The outlook for ataxia can vary significantly and largely depends on the specific type of ataxia. Some types may remain stable or even improve over time, but most will worsen progressively over many years.
People with hereditary ataxia generally have a shorter life expectancy than normal; however, some individuals can live into their 50s, 60s, or beyond. In more severe cases, the condition can be fatal in childhood or early adulthood.
For acquired ataxia, the outlook depends on the underlying cause. Some cases may improve or remain stable, while others may worsen over time and reduce life expectancy.
Zhen Yan, PhD, an exercise researcher at the University of Virginia School of Medicine, is urging clinical trials of exercise in patients with Friedreich’s ataxia after finding that physical activity has a “profound” protective effect in mouse models of the debilitating genetic disease. Dan Addison | UVA Health
A top exercise researcher at the University of Virginia School of Medicine is urging clinical trials of exercise in patients with Friedreich’s ataxia after finding that physical activity has a “profound” protective effect in mouse models of the debilitating genetic disease.
Friedreich’s ataxia typically limits patients’ ability to exercise. But the new findings from UVA’s Zhen Yan, PhD, suggest that well-timed exercise programs early in life may slow the progression of the disease, which robs patients of their ability to walk.
The finding could prove particularly important because genetic testing is currently not mandatory, and there are no effective treatments for the condition.
“When dealing with a genetic disease, we often hope that gene therapy is advanced to a point with great precision and efficiency that we can replace the defect gene in the whole genome and in all the affected cells in the body, but the reality is that we are not there yet,” said Yan, director of the Center for Skeletal Muscle Research at UVA’s Robert M. Berne Cardiovascular Research Center. “This study points to a promising alternative approach of exercise intervention to promote the expression of an iron regulator to bypass the defect gene in maintaining normal mitochondrial function. This could fundamentally change for the good the life of Friedreich’s ataxia patients.”
About Friedreich’s Ataxia
Friedreich’s ataxia affects about 1 in 50,000 people. The disease is caused by a genetic mutation that impairs mitochondria, the powerhouses of cells. Symptoms typically appear between ages 5 and 15, though sometimes later; these symptoms include difficulty moving, poor balance, muscle weakness, type 2 diabetes and heart failure. Patients are often confined to a wheelchair within 10 to 20 years of symptom onset. Some patients with advanced disease become completely incapacitated, and the disease can lead to early death.
In a lab model of the disease, mice lose ability to run, develop blood sugar problems and show signs of moderate heart problems at 6 months of age, But Yan found that mice that started voluntary long-distance running at 2 months completely avoided those problems.
“We conclude that endurance exercise training prevents symptomatic onset of FRDA [Friedreich’s ataxia] in mice associated with improved mitochondrial function and reduced oxidative stress,” the researchers report in a scientific paper on the findings. “These preclinical findings may pave the way for clinical studies of the impact of endurance exercise in FRDA patients.”
The Many Benefits of Exercise
The discovery is the latest in a series from Yan that speaks to the benefits of exercise. He recently made headlines around the world when he determined that exercise may help prevent a potentially deadly complication of COVID-19 known as acute respiratory distress syndrome.
“Unlike drug therapy, increased physical activity has very few side effects. In fact, regular exercise has positive effects to literally all vital organ systems in our body,” he said. “You will benefit from just about any type of exercise as you age, as long as you’re not at risk of injury.”
Types of Ataxia
Some types of ataxia affect children from an early age, while other types may not develop until much later in adulthood.
Depending on the type of ataxia, the symptoms may stay the same, get progressively worse, or slowly improve.
Some of the main types of ataxia are described below. Read about the causes of ataxia for information about why these different types of ataxia develop.
Friedreich’s ataxia is the most common type of hereditary ataxia (caused by genes you’ve inherited). It’s thought to affect at least 1 in every 50,000 people.
Symptoms usually first develop before the age of 25, although it can develop in people much older than this.
Signs and symptoms of Friedreich’s ataxia can include:
problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls
increasingly slurred, slow and unclear speech (dysarthria)
increasing weakness in the legs – many people find walking difficult and need to use a wheelchair after around 10 to 20 years
difficulty swallowing (dysphagia)
abnormal curvature of the spine (scoliosis)
total or partial vision loss and hearing loss
thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain, breathlessness and an irregular heartbeat
loss of sensation in the hands and feet (peripheral neuropathy)
The symptoms of Friedreich’s ataxia usually get gradually worse over many years. People with the condition tend to have a shorter life expectancy than normal. Many people live until at least their 30s, and some can live into their 60s or beyond.
Ataxia-telangiectasia (AT) is a rarer type of hereditary ataxia, affecting around 1 in every 100,000 children. Symptoms usually begin in early childhood, although they can sometimes develop later.
Signs and symptoms of AT can include:
difficulty walking – most children need to use a wheelchair by 10 years of age
increasingly slurred, slow and unclear speech (dysarthria)
difficulty swallowing (dysphagia)
small spider-like clusters of red blood vessels in the corner of their eyes and on their cheeks (telangiectasias)
very slow eye movements, which may mean the person has to move their head a lot to compensate for this
a weakened immune system – children with AT are more vulnerable to infections, particularly infections of the sinuses, lungs and airways, such as pneumonia
an increased risk of cancer, particularly acute lymphoblastic leukaemia or lymphoma – up to 40% of people with AT will develop cancer
The symptoms of AT tend to get worse quite quickly. People with the condition usually live until the age of 19 to 25, although some may live into their 50s.
Spinocerebellar ataxias (SCAs) are a group of hereditary ataxias that often don’t begin until adulthood, affecting people from the age of 25 up to 80, depending on the type of SCA. Occasionally, some types of SCA begin in childhood.
The symptoms vary depending on the type of SCA. They can include:
problems with balance and co-ordination – many people find walking difficult and need to use a wheelchair after a few years
increasingly slurred, slow and unclear speech (dysarthria)
difficulty swallowing (dysphagia)
muscle stiffness and cramps
loss of sensation in the hands and feet (peripheral neuropathy)
memory loss and difficulties with spoken language
slow eye movement, which means people have to move their head to compensate
reduced bladder control (urinary urgency or incontinence)
Ataxia UK has more detailed information about common subtypes of SCA.
Episodic ataxia is a rare and unusual type of hereditary ataxia where someone experiences episodes of ataxia, but the rest of the time they have no or only mild symptoms.
During an episode, someone with episodic ataxia may experience:
problems with balance and co-ordination
slurred, slow and unclear speech (dysarthria)
muscle spasms
involuntary eye movements (nystagmus)
vertigo, migraines and tinnitus
Episodic ataxia usually first develops during the teenage years. The episodes can last from several minutes to hours and are usually the result of certain triggers, such as sudden movement, stress, exercise, caffeine or alcohol.
The symptoms of episodic ataxia may disappear as a person gets older, although sometimes the condition gets gradually worse over time. Medication can often help control attacks, and life expectancy is usually normal.
There are also a number of other types of ataxia that tend to have similar symptoms to those mentioned above. These include:
acquired ataxia – this can affect people of any age and usually develops very quickly over the course of a few days, or sometimes hours; it may improve over time, stay the same or get slowly worse
idiopathic late-onset cerebellar ataxia (ILOCA) – this usually begins at around 50 years of age and gets slowly worse over time
ataxia with vitamin E deficiency – a similar condition to Friedreich’s ataxia caused by problems with the body’s ability to use vitamin E in the diet; it’s often possible to control the symptoms with vitamin E supplements