From the January 1st, 2007 issue of Advance, a magazine for physical therapists
Vol. 18 • Issue 1 • Page 26

Holding Steady - How physical therapy can help patients with Friedreich's Ataxia
By Wendy Powers James, PT

Friedreich's Ataxia (FA) is an uncommon, slowly progressive disease of the nervous system and muscles that causes an inability to co-ordinate voluntary movements. Patients demonstrate classic initial signs including impaired muscle control, unsteadiness of walking, clumsiness of the hands, a tendency to trip and slurring of speech.

FA is an autosomal recessive disease involving chromosome 9 which prevents the body from making a normal amount of "frataxin" (a cellular protein). FA is characterized by progressive degeneration and gliosis of the posterior spinal roots, the spinocerebellar tracts, Clark's column, and eventually the pyramidal tracts. FA is the most prevalent inherited ataxia, affecting 1 of 50,000 people in the United States.¹ It is equally common among men and women.

Signs & Symptoms

Onset of symptoms generally starts between the ages of 5 and 15 but are usually first noted in the teenage years. Most affected people become wheelchair dependent by the second or third decade of life. The clinical manifestations of FA include an ataxic gait pattern; balance deficits; frequent falls; dysmetria of the upper and lower extremities; progressive weakness of the arms and legs; dysarthria; dysphagia; pes cavus; kyphoscoliosis; nystagmus; absent deep tendon reflexes; diminished light touch sensation, proprioception and vibratory sense; diabetes and cardiomyopathy. The various forms of heart disease that accompany FA include cardiomyopathy, myocardial fibrosis and cardiac failure. Heart failure is the most common cause of death for these patients.¹

Medical Management

There is no cure or effective treatment for FA. The symptoms and accompanying complications can be treated to help the patient maintain optimal functioning as long as possible.¹ Management of FA requires a multidisciplinary approach with the treatment team including some or all of the following health care professionals: a neurologist, a cardiologist, an orthopedist, an ophthalmologist, a speech therapist, a physical therapist, an occupational therapist, an endocrinologist, a urologist and a physiatrist.

Pilot studies have shown the potential effect of antioxidant therapy (coenzyme Q10, vitamin E, and idebenone) for FA patients.^1,2 Since the disease is caused by a reduction in frataxin levels, scientists are investigating ways to increase those levels through drug treatments, genetic engineering, and protein delivery.¹

Physical Therapy Treatment

Goals

The goals of physical therapy are to optimize function as long as possible and to minimize disability, deformity and pain. Prolonging locomotor skills is also a primary goal of the patient with FA. The primary responsibilities of the therapist are to teach these patients a comprehensive home program that is revised as needed. Typically, once these patients are on an established home program, the therapist should provide ongoing clinical evaluations (once a year on average) with changes in the home program as needed.

Evaluation

The patient with FA will need a complete and thorough evaluation from the physical therapist. The evaluation should include assessments of gait, strength, flexibility, range of motion, balance, coordination, spinal alignment, posture, functional status, foot posture/alignment, endurance, reflexes and equipment needs. The Berg Balance Measure or the Tinetti Gait/Balance Assessment Tool may be useful in the early stages when the patient is still ambulatory.

Gait Training

Because of the loss of coordination and balance with FA, gait training is a key component of the treatment plan. The ataxic gait pattern is characterized by erratic foot placement, wide based gait and an exaggerated flinging of the arms and legs. Considering the loss of proprioception, it is important to encourage use of visual feedback to compensate during gait and balance. It may even be helpful to instruct the patient to watch his feet as he walks to improve foot placement and be able to see where the feet are.

Because most patients are teenagers when the ambulation difficulties begin, the patient may be resistant to use of an assistive device. Instead, they may want to hold onto the arm of a friend or parent, or even walls and furniture. It still is the responsibility of the therapist to provide gait training with an appropriate device to ensure safety.

Rollators are beneficial since they glide smoothly and most of them have a seat for resting. Patients with FA eventually become non-ambulatory, usually within eight to 10 years of onset of symptoms.³ Even when the patient has to rely on a wheelchair for community mobility, the importance of household locomotion and weight bearing through the legs should be emphasized.

Strengthening Exercises

In performing strengthening exercises, care should be taken to avoid over-fatigue. Repetitions of exercises should be kept low with use of low weights and rest periods between sets. Strengthening hip and shoulder muscles is important for posture and maintaining functional use of the arms and legs. Trunk and low back strengthening exercises helps to reduce pain from scoliosis and maintain trunk control. Proprioceptive neuromuscular facilitation exercises are recommended for ataxic patients. Rhythmic stabilization can be provided by the therapist to promote trunk stabilization with the patient in prone on elbows, quadruped, kneeling or standing positions.⁴

Stretching Exercises

Stretching of the gastrocnemius/soleus muscles and foot arch are important for patients with FA due to the typical presence of the pes cavus foot deformity.⁴ Stretching of spinal musculature is beneficial to tightened muscles that result from scoliosis. If the patient is wheelchair bound, it would also be beneficial to stretch hamstrings and hip flexors to prevent contractures.

Coordination Exercises

When instructing the patient in coordination exercises, advise them to "watch" the movement as this will give the brain feedback. Sometimes a mirror may be helpful during performance of these exercises. It is more beneficial to have the patient perform these exercises with eyes open, as performing with eyes closed may not provide any functional carry over due to the loss of proprioception. Coordination activities may be incorporated into daily functional tasks such as cooking, doing crafts, writing or dancing, with instruction to the patient to watch the movement when possible.

Balance Exercises

Patients may tremble/wobble with static standing and may report frequent falls. Balance exercises may assist with improving or maintaining balance and stability during sitting, standing, walking and moving. Instruct the patient to do these exercises in front of a mirror or to focus eyes on a still object. It may also be helpful to instruct the patient to concentrate (think about being "steady") while thinking positive thoughts about the performance of the task/exercise.

Conditioning

Cardiovascular exercises should be emphasized for the patient with FA. Moderate exercise is usually not contraindicated for patients with FA since the cardiac abnormalities are not occlusive or sclerotic in nature.⁴ A stationary bicycle is beneficial since the patient can sit on a stable base while exercising. Swimming or aquatics exercises are also beneficial. A patient with FA who is still ambulatory may feel that pool exercises are more desirable as balance and coordination deficits tend to be less obvious and limiting in the water.

Equipment Needs

Adaptive devices are beneficial to compensate for loss of coordination and strength required for certain daily activities. Prostheses, assistive devices and wheelchairs may be recommended to aid with ambulation and mobility.

Conclusion

Before establishing the treatment plan for a patient with Friedreich's Ataxia, the physical therapist must perform a thorough evaluation of the patient including subjective complaints, functional abilities, posture, muscle strength, range of motion, muscle flexibility, coordination, mobility, gait, endurance and cardiovascular response to activity. The physical therapist can then responsibly establish appropriate interventions to address the patient's specific needs.

Establishing a reasonable and safe exercise program is of extreme importance for this patient population. An individualized home exercise program may also contribute to the patient's sense of well-being. Once an initial program is established and the therapy sessions are completed, the patient should receive periodic re-evaluations with accompanying updating of the home program. Because of the progressive nature of the disease, gains in strength or coordination should not be expected, but instead the desired outcome is prolonged function and a higher quality of life.⁴

References

1. National Institute of Neurological Disorders and Stroke. (2006). Friedreich's Ataxia Fact Sheet.

2. Lodi, R., et al. (2006). Friedreich's ataxia: From disease mechanisms to therapeutic interventions. Antioxidants & Redox Signaling, 8(3-4), 438-443.

3. Muscular Dystrophy Association. (2006). Friedreich's Ataxia Fact Sheet.

4. Blattner, K. (1988). Friedreich's Ataxia: A suggested physical therapy regimen. Clinical Management, 8(4), 14-15, 30.

Wendy Powers James is a physical therapist at Oleander Rehabilitation Center of New Hanover Regional Medical Center in Wilmington, NC.