Hereditary ataxia
Your care plan
As hereditary ataxia is such a rare condition, if you are diagnosed with it, it is likely that you will be referred to a specialist ataxia centre so that a care plan can be drawn up.
The purpose of your care plan is two-fold:
- to assess what physical, social, and psychological needs that you have, and how these needs can best be met, and
- to assess what needs may arise in the future.
As there is currently no cure for hereditary ataxia, much of the care that you will receive will be based on helping you to cope better with your symptoms. This is known as symptomatic care.
Your care team
Treating hereditary ataxia requires a combination of different healthcare professionals, with their own individual areas of expertise, working together as a team. This type of team is known as a multi-disciplinary team (MDT).
For example, your care team may include:
- a neurologist, (a specialist in treating conditions that affect the brain and nervous system),
- a cardiologist (a specialist in treating heart conditions),
- an ophthalmologist (an eye care specialist),
- an urologist (a specialist in treating conditions that affect the bladder, such as urinary incontinence),
- a physiotherapist (a therapist who helps people by improving their range of movement and coordination),
- a speech and language therapist,
- a psychologist (a mental health specialist),
- a social worker,
- an occupational therapist (someone who helps people to improve the skills and abilities that they need for daily activities, such as washing and dressing), and
- a specialist neurology nurse (who will usually be your first point of contact with the rest of the team).
Medication
Currently, medication to directly treat the symptoms of ataxia is only available to treat ataxia with vitamin E deficiency and episodic ataxia type 2.
Vitamin E supplements
Ataxia with vitamin E deficiency can be treated by taking vitamin E supplements.
The side effects of theses supplements are rare but can include:
- blurred vision,
- dizziness,
- headache, and
- fatigue
If you have the symptoms of Friedreich’s ataxia but testing does not find the mutated GAA gene, you may be given a ‘trial dose’ of vitamin E to see if your symptoms improve.
Acetazolamide
A medication called acetazolamide has proved to be fairly successful in preventing, or at least reducing, the frequency of ataxia attacks.
Acetazolamide is thought to work by reducing the levels of a substance called bicarbonate in the body. Excess levels of bicarbonate in nerve cells are believed to be responsible for the symptoms of episodic ataxia type 2.
Common side effects of acetazolamide include:
- nausea,
- vomiting,
- diarrhoea,
- headache,
- rash,
- dizziness, and
- drowsiness.
If you experience side effects of dizziness and drowsiness, you should not drive, or operate complex, or heavy, machinery. The side effects listed above should improve as your body gets used to the medication.
The long-term use of acetazolamide has been linked to an increase risk of developing kidney stones. In order to counter this risk, drinking citrus juices, such as orange juice on a regular basis, may be recommended. This is because citrus juices can reduce the amount of calcium in your kidneys which is a common cause of kidney stones.
Muscle problems
If you are experiencing additional symptoms of muscle spasms, cramps and/or stiffness, medication is available to help control these types of symptoms. For example, muscle relaxants, such as diazepam, can be used.
The side effects of diazepam include:
- drowsiness,
- slurred speech,
- constipation,
- nausea, and
- incontinence.
If diazepam proves to be ineffective at reducing your symptoms, a number of alternative muscle relaxants are available, such as dantrolene and tizanidine, both of which have similar side effects to diazepam.
If muscle relaxants are not effective, an injection of botulinum toxin (BTA) may be given. BTA works by blocking the signals from the brain to the affected muscles.
The effects of the injection normally last for up to three months after which
Speech and language therapy (SLT)
A speech and language therapist should be able to help you with two of the most common symptoms of ataxia:
- slurred speech (dysarthria), and
- swallowing problems (dysphagia).
The therapist will be able to provide you with advice about how to make your voice sound clearer. For example, they may suggest:
- changing your posture to improve the quality of your voice,
- carrying out exercises to strengthen the muscles that are used when speaking,
- learning to speak more slowly in order to better emphasis each word,
- using breathing techniques to improve your speech.
If the symptom of dysarthria worsens, you may want to consider using speaking aids, such as a laptop computer that is connected to a voice synthesizer. Your therapist will be able to provide you with advice about available equipment.
In terms of treating the symptom of dysphagia, your therapist may be able to teach you exercises that can stimulate the nerves that are used to trigger your swallowing reflex and strengthen the muscles that you use during swallowing.
There are also a number of physical techniques that can be used to make swallowing easier. For example, some people find that ducking their chin forward when swallowing helps to prevent any food from entering their airways.
You may be referred to a nutritionist who will advise you about making changes to your diet, such as incorporating food and liquids that are easier to swallow while also ensuring that you eat a healthy, balanced diet. For example, mashed potatoes are a good source of carbohydrates, and scrambled eggs and cheese are high in protein and calcium.
Occupational therapy
The aim of occupational therapy is to teach you how to adapt to your gradual loss of mobility, and to develop new skills that you can use to carry out daily activates.
An occupational therapist can teach you how to use a wheelchair and make use of walking aids, such as crutches. They will also be able to advise you about modifications that you can make to your house to make your life easier, such as guiderails or a stair lift.
Physiotherapy
In people with ataxia, physiotherapy can help to achieve two main goals:
- to prevent the weakening of your muscles that are not normally used, and
- to prevent your muscles from getting stuck in a rigid position (contracture).
Your physiotherapist will be able to teach you a number of physical exercises that you can do every day to strengthen and stretch your muscles. Special arm or leg braces may also be used to help stretch your muscles.
Acute ataxia
The recommended treatment for acute ataxia will depend on the underlying cause and whether your ataxia symptoms are likely to persist on a long-term basis.
For example, if ataxia is caused by a complication of an infection, using antibiotics, or anti-virals, to treat the underlying infection should help resolve the symptoms of ataxia.
If the ataxia is due to serious underlying brain damage, such as damage arising from a stroke, or a severe head injury, it is likely that the symptoms will persist. If this is the case, your ataxia will be treated in the same way as hereditary ataxia.
