Ataxia is a disease of the nervous system. There are several types of ataxias. Some are hereditary and degenerative, while others can be acquired in various ways.

Many symptoms of ataxia are similar to being drunk, such as slurred speech, a staggering gait, and poor motor coordination. These symptoms are caused by damage to the cerebellum, the part of the brain responsible for coordinating our movements, although ataxias can affect other parts of the nervous system.

Currently, there is no cure for ataxia, but there is treatment for the symptoms, involving combinations of medications and therapies to improve quality of life. People affected by ataxia may have difficulty using their fingers and hands, arms, legs, walking, speaking, swallowing, or moving their eyes. Ataxia can affect people of any race and age.

The age at which symptoms appear can vary greatly, from childhood to adulthood. The complications that ataxia brings are serious and, in many cases, disabling. Some types of ataxias can lead to premature death ( source: NAF ).

Note: The term "ataxia" is used both to indicate specific diseases (e.g., "Friedreich's ataxia") and to refer to a set of neurological symptoms such as imbalance and poor motor coordination, which can be caused by various diseases, such as Multiple Sclerosis. Thus, there are patients who have ataxia (= the disease, for example, spinocerebellar ataxia type 3, or SCA3), and others who have typical ataxia symptoms caused by different causes.

For more information, see the Ataxias Map at https://www.ataxia.info/mapa-ataxias

Last updated on 10/16/2024 by Márcio Galvão.

Anyone of any age can have ataxia, but certain types are more common in certain age groups. For example, people with Friedreich's ataxia are usually diagnosed in childhood or adolescence.

Last updated on April 9, 2023, by Márcio Galvão. To report errors in this text, please contact us . Thank you!

Ataxias are rare conditions. There is insufficient data to make reliable statements about the prevalence (the population of ataxias) in Brazil. There is also the problem of difficulty in diagnosis—many people have ataxia but are not diagnosed, or are diagnosed with other conditions, which contributes to underreporting.

According to epidemiological studies, the estimated prevalence (global average) of SCAs (spinocerebellar ataxias) is between 1 and 5 cases per 100,000 population. This number includes all forms of hereditary SCAs, such as SCA1, SCA2, SCA3, SCA6, SCA7, and others. Prevalence varies by region (for example, SCA2 is more prevalent in Cuba), and underreporting must also be taken into account; that is, prevalence may vary depending on the availability of genetic testing in different regions.

Global average prevalence

• The global average prevalence of SCA1 is estimated to be around 0.3 to 1.5 cases per 100,000 people. For SCA1, the countries with the highest prevalence are India, Russia, Poland, Germany, and the United States.

• The average prevalence of SCA2 is estimated to be about 0.3 to 2 cases per 100,000 people. However, the distribution of SCA2 is very uneven, with significantly higher rates in some specific populations, such as Cuba (especially Holguín Province), some regions of India, and parts of Mexico (such as Veracruz), where the founder effect has increased prevalence.

• The global average prevalence of SCA3 is estimated at approximately 0.5 to 2 cases per 100,000 people, with significant regional variations. SCA3 is the most prevalent spinocerebellar ataxia worldwide, being particularly prevalent in Portugal, Brazil, Japan, China, and the Philippines.

• The global average prevalence of SCA7 is estimated to be approximately 0.1 to 1 case per 100,000 people. Prevalence is higher in some regions due to the founder effect and the concentration of the mutation in specific populations. Examples include areas of Sweden, parts of Mexico (particularly among some indigenous populations in the state of Oaxaca), and among the Afrikaner population of South Africa.

Average prevalence in Brazil

The average prevalence of some spinocerebellar ataxias is shown below. Values vary depending on the region of Brazil, being higher in some areas due to migration histories and genetic factors.

Type of Ataxia Average Prevalence in Brazil (cases per 100,000)

SCA1 0.2 to 0.5 (2 to 5 cases per 1,000,000)

SCA2 0.7 to 1.1 (7 to 11 cases per 1,000,000)

SCA3 3.0 to 5.6 (30 to 56 cases per 1,000,000)

SCA7 0.1 to 0.3 (1 to 3 cases per 1,000,000)

Observations:

• SCA3 (Machado-Joseph Disease) is the most common form of spinocerebellar ataxia in Brazil, with an especially high prevalence in some communities of Azorean descent, especially in the South and Southeast of the country, due to the "founder effect" (historical migration of people from regions of the world with a higher frequency of the mutation).

• SCA2 also has a significant prevalence in some regions, especially in the south and southeast of the country, although it is less common than SCA3.

• SCA1 and SCA7 have a lower prevalence, but are present in several Brazilian regions, mainly in populations with a known genetic history.

It should be noted that ataxia cases are significantly underreported in Brazil. Many patients with ataxias caused by genetic mutations do not have access to DNA testing that would allow for an accurate diagnosis of the type of ataxia. There are also patients with ataxias that are not hereditary (they are acquired from various causes) or for which the responsible genes have not yet been identified, for which there is no molecular test that allows for diagnosis.

Content generated with the support of Artificial Intelligence .

Last updated on 12-11-2024 by Márcio Galvão.

There are many different causes of ataxia. It's important to remember that ataxia is a symptom and can occur as a result of many different conditions.

Hereditary ataxias

Many ataxias are inherited conditions caused by defects in certain genes that code for misfolded proteins, which are toxic to cells and can impair important cellular functions. The most common inherited progressive ataxia is Friedreich's ataxia . The most common inherited dominant ataxia is SCA3 (Machado-Joseph disease).

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Acquired ataxias

In addition to hereditary ataxias, there are also ataxias that can be acquired in different ways, such as lesions in the cerebellum caused by accidents, tumors, alcohol abuse, hypothyroidism, Multiple Sclerosis, vitamin E deficiency, heavy metal poisoning, ataxia caused by products used in chemotherapy, ataxias caused by the effect of certain medications and other factors.

Idiopathic Ataxias

There are also many people with ataxia symptoms but who do not have a specific diagnosis (the cause of ataxia is not yet known). These people are diagnosed with idiopathic cerebellar ataxia, and many researchers are focused on finding new genes and new types of ataxias.

For more information on hereditary, acquired, and idiopathic ataxias, see the Ataxias Map at https://www.ataxia.info/mapa-ataxias

Last updated on 18-05-2023 by Márcio Galvão.

Some specific forms of acquired (non-hereditary) ataxia can be "cured" in the sense that their symptoms can be eliminated. For example, if a person has ataxia due to gluten intolerance, they will do well if they avoid gluten. Unfortunately, for most cases (including all forms of hereditary ataxias) , there is still no cure, but there IS treatment .

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Hereditary ataxias and most acquired ataxias still have no cure, but their symptoms can be treated.

* Neurofunctional physiotherapy, exercises (especially exercise bike) and other regular physical activities (Yoga, Pilates, water aerobics, etc.) are recommended (within each person's possibilities).

* To reduce the risk of falls due to balance difficulties when walking, you can use canes, walkers or wheelchairs, depending on the need and stage of the disease.

* Occupational physiotherapy and some adaptations at home and in daily habits can help (e.g. installing grab bars in hallways and bathrooms, a shower chair, lights for nighttime illumination, repositioning furniture to facilitate mobility, removing rugs to avoid tripping, using cups with lids and straws, shoes with non-slip soles that are easy to put on, etc.).

* Rest whenever necessary (ataxia can cause fatigue), and it's important to get a good night's sleep. If you have trouble sleeping, consult your doctor, as there are medications that can help (e.g., CBD oil).

* Maintain a healthy diet and good hydration.

* Supplements (e.g. Coenzyme Q10) and vitamins (D, B12, etc.) may be recommended (consult your doctor to assess the need - do not consume vitamins and supplements without medical supervision).

* It is advisable to control your weight to avoid even greater difficulties with mobility.

* For diplopia (double vision) caused by ataxia, prism glasses may help. Nystagmus can be treated with medications. Consult a neuro-ophthalmologist if these symptoms occur.

* In case of spasticity, consult a neurologist, as there are medications that can help (e.g. Baclofen).

* In the case of neuropathic pain (pain or uncomfortable sensations due to nerve damage and/or malfunction), consult a neurologist, as there are medications that can help (e.g. Gabapentin).

* If you experience dizziness and/or vertigo, consult a neurologist as there are medications that can help. Specific physical therapy for vestibular problems is also recommended.

* For dysarthria, if such a symptom manifests, specialized speech therapy (speech therapy) is recommended. Depending on the stage, the use of assistive communication devices (available for smartphones, computers, iPads, etc.) may be evaluated.

* For dysphagia, if it occurs in more advanced stages of the disease, a consultation with a speech therapist is also recommended - there are exercises that can help with swallowing, reducing the risk of choking that can cause aspiration pneumonia.

* In case of tremors, consult a neurologist as there are medications that can help (e.g. Prolopa).

* Avoid (as much as possible) stress, which generally worsens ataxia symptoms.

* If necessary, medications are available to manage anxiety and depression. Consult your doctor to discuss the most appropriate options.

[MG Note]: In February 2023, the FDA approved the world's first drug for ataxia, SKYCLARYS, developed by Reata Pharmaceutics , for Friedreich's ataxia. This drug is not yet a cure, but it can modify the course of the disease, slowing its progression.

See https://youtu.be/oW3KTGv4rUE?si=V88gL1YNTRE7M48H

There's a lot of ongoing research aimed at FDA approval of other therapies and medications that can cure or slow the progression of different types of ataxias. If you have ataxia, stay informed.

Last updated on 18-05-2023 by Márcio Galvão.

Various research, natural history studies, real-life studies, and clinical trials testing ataxia medications are being conducted by various laboratories and universities around the world. Brazil's participation in these studies is important for the advancement of ataxia research here, and Brazil has excellent researchers at USP, UNICAMP, and other centers of academic excellence.

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To increase the chances of Brazilians with ataxias participating in these studies (i.e., for Brazil to be included in the list of locations where the study will be conducted), it is extremely important that patients with a diagnosis register with Abahe (Brazilian Association of Hereditary and Acquired Ataxias). Those who are invisible are forgotten.

There are thousands of ataxias in Brazil, and the Abahe registry gives these individuals the opportunity to be contacted during the recruitment phase of clinical trials, real-life studies, or even natural history studies of the disease, to inform them of their desire to participate. The existence of this organized registry, whose data is kept confidential, is crucial for large pharmaceutical companies to invest millions of reais in fees to approve the drug's marketing registration in the country.

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Note! In addition to registering with Abahe, which facilitates initial recruitment, there are technical criteria that patients must meet to voluntarily participate in the study. These inclusion (or exclusion) criteria are aimed at patient safety. In other words, while very important, being registered with Abahe does not guarantee that a patient will be accepted into a particular clinical trial. This decision follows technical criteria established by the study organizers and is beyond the scope of Abahe, which generally collaborates in the recruitment phase.

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Registering with Abahe is essential for those with hereditary or acquired ataxias. The disease is rare, but those who have it don't have to be invisible.

Last updated on 18-05-2023 by Márcio Galvão.

Yes. Anyone with ataxia who gets an infection (e.g., COVID, urinary tract infection, etc.) should treat the infection, otherwise some ataxia symptoms may worsen. Naturally, anyone with an infection needs treatment, but this is especially important for ataxics.

In a webinar, Dr. Susan Perlman (an ataxia specialist) urged caution with "long COVID," which is still not well understood and can leave neurological and other sequelae, raising concerns worldwide. The important message here is that "some ataxia symptoms can worsen with infections."

Source: [1]

Last updated on 09-04-2023 by Márcio Galvão.

The SARA (Scale for Assessment and Rating of Ataxia) scale is specifically designed to quantify the progression of ataxia in both children and adults. It has eight items that measure impairments typically seen in cerebellar ataxias. Each item is scored, and the score is accumulated, ranging from 0 points (absence of ataxia) to 40 points (most severe ataxia).

The items assessed in SARA are Gait, Posture, Sitting, Speech disturbance (dysarthria), Finger-chase test, Nose-finger test, Rapid alternating hand movement, and Heel-knee-ankle slide.

Another alternative scale to assess the progression of ataxias is the f-SARA, which has only 4 categories (walking, standing, sitting and talking).

For more information see https://www.physio-pedia.com/Scale_for_the_Assessment_and_Rating_of_Ataxia_(SARA)

Last updated on 11-11-2024 by Márcio Galvão.

It depends on the type of ataxia.

Hereditary ataxias are degenerative diseases of the nervous system, meaning they progress over time. The rate of progression, however, can vary greatly. Dr. Susan Perlman (an ataxia specialist) responded that some types of ataxia (such as spinocerebellar ataxia type 5, or SCA5) can progress very slowly.

[MG Note]: SCA5 is also called "Lincoln's Disease" because there is a family of carriers who are descendants of President Abraham Lincoln. For more information, see the SCA5 Fact Sheet at https://www.ataxia.info/ficha-sca5

In general, hereditary ataxias progress slowly, and if the person suddenly notices that the progression seems to be accelerating, they should check if they have changed anything in their routine recently that could be worsening symptoms (change in exercise routine? Marital crisis? Increased stress? Financial problems? Have they caught an infection, including COVID, which can trigger inflammatory processes? Have they recently changed their diet? Have they become diabetic and don't know it? Have they started drinking alcohol? Etc.).

On the other hand, there are acquired (non-hereditary) ataxias that manifest symptoms but are not degenerative diseases (e.g., ataxia caused by an accident that causes damage to the cerebellum) and will not "progress" over time in the same way as hereditary ataxias. It is also worth noting that some acquired ataxias can "stop progressing" if the factor causing the ataxia is controlled. For example, if a person has ataxia due to gluten intolerance, they may "stagnate" (in the sense of avoiding symptoms) if they avoid gluten consumption.

For more information on the different types of ataxias and their progressions, see the Ataxias Map at https://www.ataxia.info/mapa-ataxias

Last updated on 18-05-2023 by Márcio Galvão.

The health impact on caregivers of patients with rare and serious diseases is significant, affecting both their physical and psychological well-being. Caring for someone in such a situation often involves long hours, high levels of stress, and a profound emotional impact. Here are some of the main effects:

1. Mental Health:

• Chronic stress: Caregivers often deal with constant stress due to the responsibilities and uncertainties associated with the patient's condition.

• Depression and anxiety: The emotional burden of caring for someone with a serious or rare illness can lead to an increase in mental health problems such as depression and anxiety.

• Social isolation: Time spent caring can decrease social contact, leading to isolation, which worsens mental health problems.

2. Physical Health:

• Fatigue and burnout: Caregivers often sacrifice their own rest, resulting in physical and mental exhaustion.

• Musculoskeletal problems: Performing physical tasks, such as helping the patient move or performing daily activities, can cause back, joint, and muscle pain.

• Compromised immune system: Stress and lack of rest can weaken the immune system, making the caregiver more susceptible to illness.

3. Economic and Social Impact:

• Financial difficulties: Many caregivers end up reducing their workload or even leaving their jobs to dedicate themselves to caregiving, which can generate financial stress.

• Work-life imbalance: Lack of time for themselves, coupled with the need to balance caregiving with other responsibilities, can result in burnout.

4. Emotional Overload:

• Guilt and frustration: Caregivers may feel guilty about not being able to devote enough attention to other areas of their lives or about not seeing improvements in the patient's condition. Frustration about not having control over the disease is also common.

• Anticipatory grief: In serious illnesses, caregivers may experience anticipatory grief, preparing themselves emotionally for the possible loss of their loved one.

5. Insufficient Support:

• Many caregivers report a lack of adequate professional or emotional support, increasing the feeling of being overwhelmed and alone in the caregiving journey.

To mitigate these impacts, it is essential that caregivers receive psychological support, have access to respite programs, and have support networks, both family and health professionals. Public policies and support organizations also play an important role in alleviating this burden. There are specific support groups for relatives and caregivers that can help, as well as seek psychological counseling.

There are specific support groups for relatives and caregivers that can help, as well as seek psychological counseling.

Response generated with the support of Generative AI (ChatGPT).

Last updated on 10/16/2024 by Márcio Galvão.

Yes, there is a link between Amyotrophic Lateral Sclerosis (ALS) and some spinocerebellar ataxias (particularly SCA2), due to overlapping genetic, clinical, and molecular mechanisms. Studies indicate that certain genetic mutations may be present in both conditions, generating shared characteristics.

Genetic overlap:

• The C9orf72 gene, associated with ALS, may also be involved in conditions with ataxic manifestations.

• Mutations in the ATXN2 gene, related to SCA2, have been identified in ALS patients, with intermediate expansions increasing the risk for ALS.

Clinical overlap:

• Symptoms of muscle weakness in ALS may coexist with instability and incoordination, characteristics of spinocerebellar ataxias.

• Individuals diagnosed with ALS may present with ataxic signs, requiring diagnostic reviews.

Common mechanisms

• Both disorders share alterations in cellular pathways, such as mitochondrial dysfunction, oxidative stress, and protein aggregation.

Genetic and clinical overlap requires careful differential diagnosis, often involving genetic testing. This connection may also guide therapies for both conditions, as underlying molecular pathways are shared. Thus, the interaction between ALS and spinocerebellar ataxias reveals new possibilities for study and treatment.

However, it is important to understand that SCA2 is not ALS, does not produce the same symptoms, and does not progress like ALS.

Learn more about ALS .

For more information about SCA2 ataxia, see https://www.ataxia.info/ficha-sca2

Last updated on 11/19/2024 by Márcio Galvão.

The use of the expression "ataxia carrier" is incorrect, both clinically and politically. A "carrier" is someone who has the disease (carries the gene with the mutation) but does not develop symptoms. A "patient" is someone who has the disease (inherited the gene with the mutation) and develops symptoms.

For example, in ataxias with autosomal recessive transmission (such as Friedreich's ataxia), both parents have the mutated gene (and are therefore "carriers"), but they themselves do not develop symptoms of the disease. However, their children, who inherit one mutant gene from their father and another from their mother, will develop the symptoms of Friedreich's ataxia (and are therefore "patients").

Therefore, anyone who has symptoms of ataxia is a "patient" .

By the way, the UN has guidance that the term “person with a disability” should not be used for people with rare diseases (including ataxias).

The recommended term is “person with a rare disease” or “patient with a rare disease”.

Last updated on 10-04-2023 by Márcio Galvão.

In general, blood donation guidelines focus on ensuring that the donor is in good health and can undergo the procedure safely, without their condition jeopardizing the quality of the blood or the safety of the process itself. SCA3 ataxia is not a contagious disease, and international transfusion manuals and guidelines (such as those issued by the World Health Organization or national blood bank associations) do not specifically contraindicate transfusion for people with SCA3 spinocerebellar ataxia, provided other health criteria are met.

However, it's important to consider the donor's clinical condition. SCA3 is a progressive disease that can affect mobility and coordination. If symptoms are significant enough to make it difficult to remain comfortable and safe during the collection process (for example, due to difficulty sitting or maintaining a proper posture during donation), the donation center may choose to postpone or contraindicate donation at that time.

In short, SCA3 does not automatically prevent blood donation. Eligibility will depend on individual clinical assessment and the specific guidelines of the blood collection service. It is recommended that interested individuals consult their doctor and inquire with the donation center for a complete analysis of their case.

Response generated with the support of artificial intelligence.

Last updated on 03/20/2025 by Márcio Galvão.