Ataxia

Ataxia- Ataxia means absence of order. It denote disturbance of coordinated muscle activity. It is caused by disorders of cerebellum and efferent connections.
Introduction,
Classification,
Clinical presentation,
Diagnostic Procedure
Treatment
Physiotherapy Rehab.

1. Ataxia Dr. Jyoti Soni (PT) BPT, MPT (Neurology and Psychosomatic disorders) Assistant Professor Apex University, Jaipur

2. Definition Ataxia means absence of order. It denote disturbance of coordinated muscle activity. It is caused by disorders of cerebellum and efferent connections. Disease of PNS( neuropathy) may also cause the ataxia.

3. In cerebellum, dysfunction of lower vermis ( vestibulocerebellum ) leads to truncal ataxia. Spinocerebellar lesion (upper vermis and ant. part of hemisphere) cause unsteadiness of gait and stance, which are more evident after eye closure ( positive Romberg ). Neocerebellar ( cerebellar hemisphere ) damage leads to ataxia with intended limb movement. Ataxia limb movement are irregular and jerky and tend to overshoot the target (past pointing). Accompanied by rhythmic side to side movement as target is approached (intentional or action tremor). Dysarthria with intonation and disturbance of occular movement (broken of smooth pursuit, gaze evoked nystagmus ).

4. Classification of ataxia 1. Hereditary ataxia- Autosomal recessive ataxia Mitochondrial disorders Autosomal dominant ataxia Spinocerebellar ataxia Episodic ataxia 2. Spongiform encephalopathy 3. Nonhereditary ataxia Multiple system atrophy, cerebellar type Symptomatic ataxia- alcoholic cerebellar degeneration,ataxia due to other toxic causes, acquired vit.deficiency /metabolic disorders,cerebellar encephalitis or due to physical cues. Vascular ataxia- haemorrhage of cerebellum Bacterial cerebellitis Trauma Multiple sclerosis (early and late ataxia) Spinal cord / nerve root disorders

5. Clinical presentation Ataxia can have an insidious onset with a chronic and slowly progressive . Ataxia can have an acute onset ,because of cerebellar infarction, haemorrhage ,infection and have rapid progression Subacute onset (immunological disorders) Laterlised cerebellar lesions cause ipsilateral symptoms, in diffuse cerebellar lesion give rise to more generalised symmetric symptoms. Lesion in cerebellar hemisphere produce limb ataxia. Lesion of vermis cause truncal and gait ataxia with limb spared. Vestibulocerebellar lesions cause disequilibrium , vertigo, gait ataxia.

6. Stance – impaired stance in absence of motor weakness or gross involuntry movement-sensory ataxia or cerebellar ataxia Gait ataxia- due to incoordination of lower extremities of loweer extremities . Patient often feel insecure and have to hold onto the wall or furniture and walk with feet apart. Sensory ataxia-  positive Romberg sign. Subjects may walk with a high-stepping gait (due to associated motor weakness) or feet-slapping gait (to assist with sound-induced sensory feedback). Truncal ataxia . Patients may present with truncal instability in the form of oscillation of the body while sitting (worse with arms stretched out in front) or standing . Limb ataxia . Limb ataxia is often used to describe ataxia of the upper limbs resulting from incoordination and tremor and can be better described by functional impairment, such as clumsiness with writing,buttoning clothes, or picking up small objects. The patient has to slow down the movement to be accurate in reaching things. Dysdiadochokinesia / dysrhythmokinesis.Dysdiadochokinesia / dysrhythmokinesis  is tested by rapidly alternating hand movements or tapping the index finger on the thumb crease.

7. Intention tremor . Intention tremor results from instability of the proximal portion of the limb and is manifested by increasing amplitude of oscillation at the end of a voluntary movement. It is often tested by finger-to-nose and heel-to-shin maneuvers . Dysmetria . The patient misses the targeted object either due to overshoot ( hypermetria ) or undershoot ( hypometria ). Dysmetria is often tested by a finger-chasing test Dysarthria /scanning speech .  Upbeat and downbeat nystagmus are defined by the rapid phase in the up or down direction.

8. Common symptoms- Lack of coordination Slurred speech Trouble eating and swallowing Deterioration of fine motor skills Difficulty walking Gait  abnormalities Eye movement abnormalities Tremors Heart problems

9. Diagnostic Procedures  May include medical history, family history, and a complete neurological evaluation. Various blood tests may be performed to rule out other disorders. Genetic blood tests are available for many types of hereditary Ataxia.

10. Treatment  Speech and language therapy, occupational therapy, and physical therapy are common treatment options. They are sometimes used in conjunction with medication therapy to manage symptoms.

11. Physiotherapy Rehabilitation for people with ataxia may adopt a compensatory or restorative approach. Compensatory approach - includes  orthotics  and devices, movement retraining, reducing the degrees of freedom and optimising the environment. 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. Despite cerebellar damage, some improvement in symptoms can occur with practice in people with chronic and progressive conditions.

12. Rehabilitation Physiotherapy can improve gait, balance and trunk control for people with ataxia, and can reduce activity limitations and support increased participation. The  prevention of falls  is important to consider in patients with progressive ataxia given their high frequency and fall-related injuries being common. 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 . Strength  and flexibility training may be indicated. 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. 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. 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  (SARA )  that was sustained after one year. 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 mixed.

13. Specific Interventions for Balance and Gait I . Video-game based coordinative training eg Intensive coordination training using whole-body controlled videogames can be an effective and motivational therapy for children with progressive ataxia II. Treadmill training Treadmill training can be an effective intervention for people with ataxia due to brain injury. 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 placement. Marked improvements in oculomotor and locomotor performance have been seen following eye movement rehearsal in a small study in patients with mild cerebellar degeneration. 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.

14. 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 body. Some individuals with ataxia find light touch contact more useful as a strategy than a conventional walking aid. Walking aids also have the potential to compromise the ability to respond to balance disturbances through impeding lateral compensatory stepping and can thus affect safety, hence ensure the appropriate walking aid is recommended for each patient. Wheelchair sitting

15. Specific Interventions for Spasticity 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 to maintain and improve range of movement and prevent the formation of contractures. eg 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 eg 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 by a specialist.

16. Exercise The recommended position should be maintained by the patient. The positioning should be comfortable. How many sets of the exercises are generally decided according to the severity of each case because it can vary from patient to patient. Generally, the number of sessions are two times a day. Two-three sets of exercises with an interval of 5-6 minutes in between the sets, in controlled manner is appreciated. Progression can be like, starting with 2-3 exercises per session with repetition of 8-10, and when the task became easy one can increase the repetition to 12-15 or can add few more exercises to the program.

17. Recommended exercise- Lying bent knee rotation: this exercises focuses on segmental movement of lower limb and will help in bed movement and transfers.It can be done by lying face up with both the knees bent, hip width apart and feet flat,arms can be positioned out wide away from the body.Now slowly begin to let both the knees rotate from one side of the body to the other side.(trying keep upper body and back flat). (calm shell). Kneeling press up: this can be start in upright kneeling position with knees under hip and with arms at the sides, slow movement from high kneeling position to hip straight body upright, to a low kneeling position hip movement down to rest on heels. Quadruped weight shifting: start positioned with hand under kneeling and knees under hips and the spine is neutral. slowly reach an arm forward to shoulder height, then begin to extend the opposite-side leg backward to hip height. balance for a moment before lowering both the arm and leg to the ground. Vestibular ball: vestibular ball can be used for balance exercises, the external support of therapist or the person helping to exercise, sitting upright on an exercise ball with feets apart,the legs are then locked by the therapist in order to avoid any fall as the patient is have balancing problems. smoothly begins to move the upper body to the right and then to the left,allow the weight of the trunk to shift from one side to another. Standing heel to toe balance: standing upright position one foot in front of the other so heel of the front foot is touching the toes of the back foot, as if standing on the tightrope.