For Physiotherapists

Patients with progressive ataxia should be referred to see a physiotherapist or neuro-physiotherapist at an early stage of the disease in order to establish strategies to maintain function (eg: balance, upper limb coordination, posture). Ideally the service provision would involve automatic referral for any patient with progressive ataxia and provision of open-access regular follow-up and long-term care².

Physiotherapy is often valuable to preserve mobility and to avoid other problems, such as those associated with being in a wheelchair. The management of specific impairments, such as muscle spasms and contractures, and tremors should involve a multidisciplinary approach including a physiotherapist who can advise on exercises (see section Muscle spasticity, spasms & joint contractures). Patients with Friedreich’s ataxia who may develop scoliosis should also see a physiotherapist for prevention strategies (see section Scoliosis). As mobility becomes impaired a physiotherapist will be involved in providing advice on walking aids or wheelchairs.

Rehabilitation for people with ataxia may adopt a compensatory or restorative approach. A compensatory approach (which includes orthotics and devices, movement retraining, reducing the degrees of freedom and optimising the environment) seems valuable for teaching people practical, everyday strategies and ways of managing the condition. It may be particularly important for those with severe upper limb tremor. Restorative approaches aim to improve function by improving the underlying impairment. Indeed, despite cerebellar damage, some improvement in symptoms can occur with practice in people with chronic and progressive conditions^203–214.

It is envisaged that physiotherapists will employ a combination of restorative and compensatory approaches guided by the patient’s clinical presentation and context. This guidance aims to assist physiotherapists in this clinical decision making process.

Rehabilitation

Physiotherapy can improve gait, balance and trunk control for people with ataxia, and can reduce activity limitations and support increased participation^{204,205,210,211,215,216}. The prevention of falls is important to consider in patients with progressive ataxia given their high frequency and fall-related injuries being common^217,218. Careful assessment is required to avoid falls.

For people with cerebellar dysfunction, dynamic task practice that challenges stability, explores stability limits and aims to reduce upper-limb weight bearing seems an important intervention to improve gait and balance^{203–205,209,210,213,215,219–224}. Strength and flexibility training may be indicated in conjunction with the above. Therapeutic equipment is often provided to support function. Intensity of training seems to be important as studies have shown that higher training intensities are associated with greater improvements in clinical outcome^211,216. There is some evidence to suggest that improvement is greater in people with less severe ataxia and it is also related to the ability to learn the task^225,226.

Targeted coordination and gait training over a four-week period resulted in improvements in people with cerebellar ataxia as measured by the Scale for the Assessment and Rating of Ataxia that was sustained after one year^211,216. Daily training improved outcome. This particular training showed a more sustained improvement in people with cerebellar dysfunction compared to people with afferent ataxias such as Friedreich’s ataxia and sensory ataxic neuropathy.

Balance training exercises undertaken in front of standardised moving visual images resulted in improvements in balance scores in some patients with SCA6 (a pure cerebellar ataxia) in a pilot trial but results were mixed²²⁷.

I. Video-game based coordinative training

Intensive coordination training using whole-body controlled videogames can be an effective and motivational therapy for children with progressive ataxia²²⁸. In a trial of ten children with progressive ataxia (who could walk without support) the use of an 8-week training programme resulted in improvements in various signs of ataxia as measured by the Scale for the Assessment and Rating of Ataxia (see section Research), Dynamic Gait Index, and Activity-specific Balance Confidence Scale. The training programme consisted of three commercially available Microsoft Xbox Kinect videogames (‘Table tennis’, ‘Light race’ and ‘20,000 Leaks’). This intervention has not been tested in adults or in children who are not able to walk unaided. Supervision from a physiotherapist is essential to ensure the correct movements are being performed and for safety.

II. Treadmill training

Treadmill training can be an effective intervention for people with ataxia due to brain injury^206,208,214. Intensity and duration of training seem to be significant factors. Consistent intensive training over many months combined with over-ground training may be required. This intervention has not been tested in people with progressive ataxias.

III. Visually guided stepping

Oculomotor and locomotor control systems interact during visually guided stepping in that the locomotor system depends on information from the oculomotor system during functional mobility for accurate foot placement²²⁹. Marked improvements in oculomotor and locomotor performance have been seen following eye movement rehearsal in a small study in patients with mild cerebellar degeneration²³⁰. Rehearsal of intended steps through eye movement alone, i.e. looking at foot target placement for each step, before negotiating a cluttered room, might improve performance and safety. This simple strategy, although task specific and short lived in nature, is promising and relatively quick and easy to apply in a functional setting.

IV. Balance and mobility aids

No studies have specifically evaluated the role of balance and mobility aids for people with ataxia. Clinical experience suggests walking aids should be considered on a case-by-case basis.

In terms of postural control, somatosensory cues from the fingertips – using light touch contact or a walking aid as a means of balance – can provide a powerful reference orientation even when contact force levels are inadequate to provide physical support for the body²³¹. Indeed, clinical observation suggests that some individuals with ataxia find light touch contact more useful as a strategy than a conventional walking aid. This may explain why some people prefer to use Nordic poles, which help encourage light touch contact, rather than traditional walking sticks that tend towards force contact and a reduction in muscular forces acting through the lower limbs.

Upper extremity weight bearing during ambulation may perpetuate deterioration or worsening of gait parameters. Therefore, it is important for people with ataxia to decrease their dependency of weight bearing through the upper limbs (eg: not leaning on furniture to assist in their walking)²⁰⁴. Furthermore, individuals with cerebellar hemisphere lesions, who are more likely to have dysmetria and tremor, may find balance and mobility aids hard to use. This is because placing and controlling a stick can be as difficult as trying to accurately place legs during swing phase. Careful assessment is required for those with dysmetria, dysdiadochokinesia and tremor.

Walking aids also have the potential to compromise the ability to respond to balance disturbances through impeding lateral compensatory stepping and can thus affect safety²³². Thus it is important to ensure the appropriate walking aid is recommended for each patient.

V. Axial weighting

There is a very limited theoretical basis for axial weighting, and no evidence to support the use of axial weights to improve gait in people with ataxia.

VI. Lycra garments

The use of lycra to affect postural sway, walking effort and speed in adults with ataxia has had mixed results that may depend on the individual. Insufficient data are available to support the use of lycra garments for children with ataxia.

VII. Biofeedback for balance and gait

Some forms of biofeedback may be beneficial. For example, the biofeedback of head position delivered using a tongue-placed electro-tactile system resulted in improvements in postural sway with eyes closed in a small study of people with cerebellar ataxia²⁰⁷. However, findings are variable and from studies with a low number.

Physiotherapy has a vital role to play in educating patients and carers in correct posture, muscle use and the avoidance of spasticity triggers such as pain and infection.

Muscle lengthening is a fundamental feature of the physical therapy management of spasticity which aims to maintain and improve range of movement and prevent the formation of contractures. This can involve physical exercises which antagonize the overactive spastic muscle and also improve muscle strength; passive stretching by the therapist or carer; or physical positioning techniques. Active exercise is generally more effective than passive exercise if the patient is able; increased fitness can also reduce fatigue and permit further exercises.

Positioning can involve splinting, casting, orthoses, standing or the use of weights, resistive devices, wedges, cushions or T-rolls. More prolonged splinting can involve firm materials such as metal or plastic, or softer supportive materials such as foam or sheepskin. Orthoses should be of good quality, well-fitted and prepared in a specialist Orthotics Department.

Electrical stimulatory devices have some evidence in the treatment of spasticity, including the Functional Electrical Stimulator, the Foot Drop Stimulator and the Transcutaneous Nerve Stimulator^36,233. However, a recent Cochrane Review of stretch for preventing contractures concluded that there was moderate to high quality evidence that stretch does not have clinically important effects on joint mobility, and there was little or no effect of stretch on pain, spasticity, activity limitation, participation, restriction or quality of life²³⁴. None of the studies considered specifically studied patients with ataxia and no studies used the intervention for longer than 7 months, therefore it is difficult to comment on longer-term treatments.

Lesions affecting the cerebellar hemispheres give rise to ipsilateral limb symptoms including tremor in addition to dysynergia, dysdiadochokinesia and rebound phenomenon. An action tremor occurs during movement, i.e. it is produced by voluntary contraction of muscle, and includes postural tremor (occurs when voluntarily maintaining a position against gravity, e.g. holding an arm out straight) and kinetic tremor (occurs during any type of voluntary movement). Kinetic tremor is further subdivided into: simple kinetic tremor, which occurs during voluntary movements that are not target-directed (e.g. flexion/ extension or pronation/supination), and intention tremor, which occurs during target directed, visually guided movements (e.g. finger nose test), and worsens at the terminal phase of the movement as the target is approached²³⁵.

In addition to affecting activities of daily living, the psychosocial consequences of upper-limb tremor can be significant²³⁶. The treatment of upper-limb tremor, via the action of pharmacological agents and physiotherapy, remains wanting. Also see section tremor.

I. Manipulation of visual information

Individuals with intention tremor or other cerebellar deficits may have difficulty using visual information to control arm and hand movements²³⁷. Tremor amplitude may be reduced if target directed movements are performed from memory rather than under direct visual guidance²³⁸ or if the primary saccade and the hand movement to reach the object are performed separately²³⁹.

II. Cold therapy

Transient tremor control using cooling could have important functional implications when performing discrete functional activities such as intermittent self-catheterisation, signing documents, working a PC and taking a meal, as has been found in MS^239,240. Deep cooling may be more effective than moderate cooling in individuals with severe tremor. Upper-limb cooling in general may not be as useful for individuals who also have significant proximal tremor.

III. Wrist weighting

Evidence in this area is equivocal^{236,238,241–243}. It seems weighted wrist cuffs (of different weights) and weighted cutlery may be useful for some individuals under specific circumstances and should be assessed on a case-by-case basis. Patient goals and perspectives should be considered when assessing the value of the intervention. As some individuals show exaggerated tremor for a short time on removal of weights, it is suggested that specific functions such as eating or writing are targeted. The long-term effects are not known; clinical observation suggests some people accommodate to the weight. Weighted cuffs may be too fatiguing or cumbersome to confer any functional or psychosocial benefit for some individuals, thus patient goals and perspectives are critical in assessing the value of this intervention.

IV. Robotics

Adaptive robotic therapy of upper limb reaching movements may be a potentially useful adjunct that may be tailored to the patient’s level of ability, allow intensive training and that can transfer to real life tasks^244,245. However, these are not widely available and at the time of writing not available in the UK.

Wheelchairs rank among the most important therapeutic devices used in rehabilitation and can make the difference between an active and efficient alignment and a postural catastrophe. Despite a lack of research studies, clinical observation suggests that powered wheelchair mobility with appropriate postural support is an option to provide people with ataxia with a means of independent mobility.

Power chairs may also help conserve energy that can then be used outside the wheelchair for carrying out activities of daily living in antigravity postures. Additionally an appropriate posture in the power chair may facilitate respiration and swallow in those patients who may be compromised in these areas. In the absence of other evidence, clinical experience and patients’ needs should be used to guide clinical reasoning²⁴⁶.

In general people with ataxia should be encouraged to exercise as part of health promotion and as long as risk factors and health and safety considerations have been assessed. Exercise should be tailored towards what appeals most to participants and may involve exploring several different options as well as building motivation and sustainability into the exercise prescription^247,248.

Note of caution: Cardiac abnormalities are a common occurrence in people with Friedreich’s ataxia. If patients have cardiac complications, advice from a cardiologist should be sought before embarking on an exercise program. (See section Cardiac involvement).

I. Hydrotherapy and swimming

Anecdotal evidence supports the value of hydrotherapy for people with ataxia as a form of exercise. Hydrotherapy and swimming, as water activities, offer risk and challenge and provide freedom of movement often not available on land²⁴⁹. Hydrotherapy is also considered to offer beneficial effects on health related quality of life.

II. General fitness training

Anecdotal evidence advocates the benefits of general fitness training, yoga and Pilates for people with ataxia to help maintain strength, flexibility and balance. Activities such as horse riding and climbing²⁵⁰ may also confer similar benefits. Psychosocial benefits have also been reported. In a case study in a patient with Friedreich’s ataxia without cardiomyopathy, aerobic training was shown to have some benefits²⁵¹, but studies in this area are lacking.

People with ataxia can experience a number of specific impairments which physiotherapists should be aware of. Clinical experience and feedback from people with ataxia indicates that fatigue can be a common and at times an overwhelming issue²⁵². Spasticity, contractures, dystonia and scoliosis can also occur. In the management of such complications, in addition to medical interventions, physiotherapy has an important part to play. See the Medical Interventions section and the MS Society Guidance for Physiotherapists (2008)²⁵³ for further direction about managing these symptoms.

Bladder and bowel problems (such as frequency, urgency and incontinence) can also be a feature of the ataxias. For specialist advice and assessment referral to a gynaecologist or urologist may be required (see section Bladder problems). For further advice refer to the Association of Chartered Physiotherapists in Women’s Health (ACPWH), which provide assessment and treatment for men and women with bladder and bowel impairment. A referral to a continence nurse may be useful. Finally, neuropathic pain can be a feature of the ataxias (see section Pain).