Friedreich's Ataxia: Life Expectancy, Symptoms, and Causes

In this blog post we will explore the symptoms, causes, and life expectancy of Friendrich’s ataxia, a rare neurodegenerative disorder with a genetic origin. In general, the life expectancy in Fredreich's ataxia varies; in some cases, individuals may live well up to their 60s, while in other cases, the life expectancy is significantly reduced.
Frederika Malichová

Frederika Malichová

Neuroscientist at the University Of Cambridge.

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Life Expectancy in Friedreich's Ataxia

The life expectancy of Friedreich’s ataxia varies. It is highly dependent on the disease onset, the symptoms the sufferer is experiencing, and the quality of care received. While some individuals can live well up to their sixties and beyond, others don’t.

Before we look at the life expectancy in Fredreich's ataxia in more detail, let us cover some background information.

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Friedreich's Ataxia is a neurodegenerative disorder that typically presents in childhood or early adolescence. The life expectancy varies among patients, with the disease progression and severity influencing survival rates. The average age at death is reported to be 36.5 years, with a range from 12 to 87 years [1]. A long-term study from 2015 involving 138 people with Friedreich’s ataxia showed that more than 88% lived for at least 10 years after diagnosis [2]. Another study reported a 10-year cumulative survival rate of 87% [3]. However, it's important to note that the primary cause of death is cardiac dysfunction, specifically congestive heart failure or arrhythmia [1].

Key symptoms of Friedreich's ataxia include difficulty walking, loss of sensation in the arms and legs, impaired speech, muscle weakness, lack of coordination, scoliosis (curving of the spine), heart palpitations, and diabetes. Other symptoms may include vision changes, hearing loss, foot deformities, and fatigue. Symptoms typically appear between the ages of 5 and 15 and worsen over time. [1], [2], [3]

What Is Friedrich's Ataxia?

Friedreich’s ataxia is a rare neurodegenerative disorder. This disease is highly degenetic and is inherited in an autosomal recessive manner, which means that both parents of the individual need to pass down a mutation on a specific gene in order for the disease to show.

It is the most common type of hereditary ataxia [1].

In particular, Friedreich’s ataxia is caused by an expansion of a GAA triplet repeat in the frataxin gene. The frataxin gene is responsible for generating the frataxin protein which is involved in iron metabolism in mitochondria [1].

The autosomal recessive mutation causes a lack of frataxin, therefore iron is not metabolized properly which leads to its accumulation in the mitochondria. Because of this, oxidative stress builds up and causes degeneration of the cells [1].

At first, this happens in the neurons and the later progresses into cardiac tissues and to some extent in the pancreas [1].

Prevalence of Friedreich's Ataxia

Friedreich's Ataxia is quite rare and its prevalence varies in countries, ranging from approximately 0.3 to 5 cases per 100 000 individuals.

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Friedreich's Ataxia (FA) is a rare genetic disorder with varying prevalence rates reported in different studies. Epidemiological studies show a prevalence of FA ranging from 1 to 4.7 cases per 100,000 inhabitants [1]. More recent studies have reported a prevalence of 0.367 per 100,000 in Brazil [2], 1.07 per 100,000 in Italy [3], and 3-4 cases per 100,000 individuals in Europe [4]. The carrier rate for FA is estimated to be 1 in 75 [5]. Please note that these figures can vary based on the population and geographical location studied.

Currently, there is no approved pharmacological treatment for Friedreich's Ataxia (FRDA). However, there are several treatment strategies being explored. These include decreasing oxidative stress, increasing cellular frataxin, improving mitochondrial function, modulating frataxin-controlled metabolic pathways, and gene therapy. Physical therapies are also being explored to maximize function in individuals affected by FRDA. While there have been significant advancements in treatment research, further research is needed to optimize these approaches and identify the most effective and safe treatment options. [1], [2], [3], [4], [5], [9], [7], [8], [6], [10], [11]

What Are The Symptoms Of Friedreich's Ataxia?

Friedreich's Ataxia is a complex condition that can manifest in a variety of symptoms.

However, the initial symptoms of Friendreich’s Ataxia include poor coordination and gait disturbance [2]. We observe the patient having difficulties with walking [3, 4, 5]. Some symptoms of Friedreich's ataxia may resemble symptoms of Parkinson's disease, but the two diseases are different.

As the disease progresses, the symptoms widen into gait and postural ataxia, cerebellar dysarthria. The sufferer may experience problems with speaking, manifesting as slowed or slurred speech, and swallowing [3, 4, 5].

Further to oculomotor dysfunction such as vision loss or vision impairment, musculoskeletal deformities, hearing impairment, and hypertrophic cardiomyopathy [2, 4, 5]. In some cases, these symptoms can be severe enough to require the use of a wheelchair 15 to 20 years after symptoms first appear [4].

These patients may suffer from heart problems, including heart palpitations [4, 5]. And some people with Friedreich's Ataxia may develop diabetes [3, 5].

In neurological examinations, it is clear that these patients lose normal reflexes in the legs and/or experience loss of sensation in the arms and legs potentially progressing to the whole body [3].

What Is The Life Expectancy Of Individuals With Friedreich's Ataxia?

Friedreich’s ataxia is a progressive disease, which means that it worsens over time. However, the disease is individual and the life expectancy can vary significantly from patient to patient. This is mainly because of the wide range of symptoms which are associated with the disease.

Individuals with late-onset Friedreich’s ataxia experience their first symptoms around the age of 25 and can live well up to their 60s or older [3, 5]. This is mainly due to the slower progression of the disease.

However, on the other hand, heart disease, which is a common complication of FA, significantly reduces the life expectancy among FA patients, and often is a common cause of death among people with Friendrich’s ataxia [5].

A long-term study, investigating 138 individuals with Friedreich’s ataxia found that more than 88% lived for at least 10 years after their diagnosis [3]. Another study found that the 10-year cumulative survival rate is 87% [6].

The disease duration also varies however, one study identified that the disease durations were 33 ± 11 and 47 ± 11 years, respectively [7]. But this only represents the averages and individual experiences vary widely.

Interestingly, for a neurological progressive disease, FA has a relatively big life expectancy, especially when compared to Amyotrophic lateral sclerosis, dementia with Lewy bodies, or Frontotemporal dementia.

However, it's important to note that the progression of the disease can be influenced by several factors, including the onset of the disease and the presence of heart complications.

To summarize, the life expectancy of individuals suffering from Friedreich’s Ataxia varies but it is generally reduced compared to the general population. However, early diagnosis and management of symptoms can help improve life expectancy.

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Frederika Malichová

Frederika Malichová

Frederika is a postgraduate researcher at the University of Cambridge, where she investigates new biomarkers for Frontotemporal Dementia and other tauopathies. Her research has been published at prestigious conferences such as the Alzheimer’s Association International Conference 2023. She obtained her BSc in Biomedical Sciences from UCL, where she worked closely with the UK Dementia Research Institute.