General symptoms of hereditary ataxia
The first noticeable symptoms of hereditary ataxia are usually a progressive loss of co-ordination and balance in your hands, arms, and legs.
Walking becomes increasingly difficult and many people are required to walk with their feet further apart in order to compensate for their loss of balance.
Tasks and activities that require a good degree of physical control (motor control) will become increasingly more challenging to accomplish.
The condition then usually begins to affect the mouth and tongue which can cause:
- your speech to become increasingly slurred, slow, and unclear (dysarthria), and
- difficulty swallowing (dysphagia).
Many people with hereditary ataxia will experience increasing weakness in their legs which means that they will require a wheelchair at some point in time.
Other symptoms of hereditary ataxia can include:
- unusual and involuntary eye movements, such as moving the eyes from side to side,
- shaking (tremor) in body parts, usually in the hands when trying to use them.
Specific symptoms of hereditary ataxia
There are a number of symptoms that are specific to certain types of hereditary ataxia. The symptoms and their associated types are explained below.
Autosomal recessive ataxias
Friedreich’s ataxia
As well as having the general symptoms of ataxia, people who have Friedreich’s ataxia may also experience:
- deformity to their feet, such as club foot (where the ankles and feet curve inwards) or hammer toes (abnormal curvature of the toes),
- abnormal curvature of the spine to one side (scoliosis),
- damage to the optic nerve, which may result in the loss of some, or all, vision,
- hearing loss,
- diabetes, and
- thickening of the muscles of the heart (hypertrophic cardiomyopathy).
Hypertrophic cardiomyopathy can cause symptoms such as:
- breathlessness,
- chest pain,
- dizziness, and
- rapid and/or irregular heart beat (palpitations).
Ataxia-telangiectasia
Many children with ataxia-telangiectasia will develop small, spider-like, clusters of red blood vessels in the corner of their eyes and on their cheeks.
Children with ataxia-telangiectasia also usually have a weakened immune system which makes them more vulnerable to infections, particularly infections of the lungs and airways (the respiratory system), such as pneumonia.
An estimated 20% of children with ataxia-telangiectasia will also develop cancer. This will usually be in the form of:
- leukaemia (cancer of the white blood cells), or
- lymphoma (cancer of the lymph nodes).
Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency is a rare type of ataxia that begins in childhood. It occurs when the body does not produce enough vitamin E. As vitamin E is known to protect against nerve damage, it is thought that the lack of vitamin E in people with vitamin E deficiency causes nerve damage.
Ataxia with vitamin E deficiency has the same symptoms as Friedreich’s ataxia. However, unlike Friedreich’s ataxia, it is usually possible to successfully control the symptoms of ataxia by taking vitamin E supplements.
Autosomal dominant ataxias
Spinocerebellar ataxia
Spinocerebellar ataxia can cause a wide range of additional symptoms depending on the sub-type of spinocerebellar ataxia that you have.
The most common sub-types are:
- spinocerebellar ataxia type 1 (SCA1),
- SCA2,
- SAC3,
- SCA6, and
- SCA7.
SCA1
The symptoms of SCA1 usually start at around 35 years of age.
As well as the usual symptoms of ataxia, people with SCA1 may also experience symptoms of:
- muscle stiffness and cramps,
- reduced sensation in their hands and feet, and
- mild cognitive problems, such as some memory loss, or difficulties with spoken language.
SCA2
In cases of SCA2, the onset of symptoms can vary widely, from the age of 6 months to 78 years. However, the average age for the onset of symptoms is 30. The later that symptoms begin, the slower they tend to progress.
Additional symptoms of SCA2 can include:
- the eyes move a lot slower than normal; many people will have to move their head to compensate,
- muscle cramps,
- reduced sensation in the hands and feet, and, less commonly,
- urinary incontinence (the unintentional passing of urine).
SCA 3
As with SCA2, the onset of symptoms of SCA can vary from between 10 years of age to 70 years of age. As with SCA2, the later the symptoms of SCA3 begin, the slower they tend to progress.
Additional symptoms of SCA 3 include:
- muscle spasms,
- blurred vision,
- tremors,
- disturbed sleep, and
- an uncomfortable feeling in the legs that gives rise to a compulsion to move the legs (this combination of symptoms is known as restless leg syndrome).
SCA6
The symptoms of SCA6 usually begin between 50 years of age and 60 years of age, and usually progress at a slower rate than the other types of SCA. For example, most people with SCA6 will still be able to walk 20 years after the onset of symptoms.
Additional symptoms of SCA6 include:
- episodes of vertigo (vertigo is the sensation that you, or the environment around you, is moving, or spinning), and
- episodes of migraine (a severe headache that is often accompanied by feelings of nausea).
SCA7
As with other types of SCA, the onset of symptoms of SCA7 can vary widely from between three months to 70 years of age, and the later the symptoms begin, the slower they progress.
Additional symptoms of SCA7 include:
- muscle stiffness,
- involuntary eye moments, and
- a progressive loss of vision which can often result in blindness.
Episodic ataxia
Episodic ataxia is a rare and unusual type of ataxia. In episodic ataxia, people experience ‘attacks’ where the symptoms of ataxia are present, while the rest of the time they remain free of any symptoms.
The symptoms of episodic ataxia usually begin when a person is a teenager. The attacks can last from anywhere between several minutes to six hours, and they are usually the result of certain ‘triggers’ such as:
- stress,
- exercise, or
- excitement.
The symptoms of episodic ataxia often disappear as a person reaches middle age. Unlike some other types of ataxia, episodic ataxia does not affect a person’s life-span.
There are two types of episodic ataxia that are known as:
- EA-type 1, and
- EA-type 2.
Acute ataxia
The symptoms of acute ataxia are the same as those of hereditary ataxia except that they usually present themselves in a much quicker time (over the space of a few hours, or days).
