Case History of Diagnostic

Disorder – Cerebellar Ataxia

Kenneth Wong PT 840

Differential Diagnosis & Intervention in Clinical Neurology

Overview of the Disorder

Cerebellar ataxia is a condition characterized by difficulties in movement and

coordination, usually without clear weakness in musculature. Afflicted patients

experience losses in balance, leading to functional limitations and worsened quality of

life. Though some damage to the cerebellum is implied, the exact etiology can be

manifold among patients, as trauma may be concentrated solely to that structure or be

diffuse while involving other neural structures; in the latter scenario, a patient’s outlook

may be worse. This is due to the cerebellum’s importance in working in concert with

other neurological structures to sequence movements in afferent and efferent pathways

(Hall, 2011). The impairments can range from dysarthria characterized by a lack of

rhythm to unintelligible communication because of slurring and slowness. Aside from

speech, patients’ limbs may have significant difficulty in movements, manifested into

predictable signs that include dysmetria, decomposition of movement, and a kinetic

tremor (Manto, 2013). Correlated to these motor deficiencies, ambulation may be

challenging, as patients’ steps may be staggered without a distinct cadence, with

demonstrable difficulties in initiation and stopping. Moreover, patients will have gait

deviations that tie closely to the level of balance deficiency (Morton & Bastian, 2003) .

Pathology

The causes for cerebellar ataxia are varied, ranging from brain tumors, chemical

toxicity, infection, stroke, and degenerative diseases. An etiological differentiation exists

between whether a patient’s condition was hereditary or acquired. Some diseases that

comprise the former’s category include the autosomal dominant cerebellar ataxias

(ADCAs), such as spinocerebellar ataxia type I (SCA1). In SCA1, progressive ataxia

combines with impairment to other neurological systems, leading to additional cognitive

impairments, spasticity, and sensory neuropathy; the ATXN1 gene is directly targeted by

a mutation (Spinocerebellar ataxia type 1.2011). While the cerebrum and concomitant

cognitive function remain whole, later declines will be seen in muscle atrophy and in

sensory disturbances (Manto, 2013). Other diseases with genetic components are

autosomal recessive and heterogeneous in nature, including Friedreich’s ataxia (FRDA).

In this disease, the condition typically presents early in age via a GAA repeat in the FXN

gene; aside from cerebellar degeneration, the spinal cord and peripheral nerves are

affected, leading to typical cerebellar signs in addition complications that include loss of

tendon reflexes and scoliosis (Friedreich's ataxia fact sheet.2014). Finally, hereditary

causes for cerebellar ataxia may be X-linked disorders. These include mitochondrial

disease that typically presents with other neurological dysfunctions that include deafness,

myopathy, and ophthalmoplegia (Bargiela et al., 2015).

In contrast, an acquired cause could be sudden in onset, progressing rapidly; a

stroke directed to the cerebellum may injure one of three arteries (superior cerebellar,

anterior inferior cerebellar, and posterior inferior cerebellar) that provide its blood

supply, yielding differing presentations. For instance, damage to the superior cerebellar

artery leads to dysmetria of the ipsilateral upper extremity and unsteadiness while

ambulating (Umphred, 2007). Drug intoxication by ethanol may also result in cerebellar

ataxia; the specific etiology of this condition results from predominant atrophy in the

anterior superior vermis, a medial structure of the cerebellum (Sullivan, Deshmukh,

Desmond, Lim, & Pfefferbaum, 2000) . In postmortem studies of human alcoholic

brains, neuronal loss has been found in the cerebellum, resulting in decreased brain

weight and white matter loss (Alfonso-Loeches & Guerri, 2011) . Another acquired

cause of cerebellar ataxia could be traumatic brain injury (TBI), possibly from motor

vehicle accidents. A TBI typically occurs with corresponding damage to other structures;

in one case series, one patient experienced multiple skull fractures and subarachnoid

hemorrhage in addition to cerebellar hemorrhage (Sartor-Glittenberg & Brickner, 2014) .

Additionally, cerebellar tumors may be a primary cause, with higher rates of prevalence

in children as opposed to adults, although prognosis for adults tends to be worse because

the cancer may be more aggressive. Chronic conditions may include nutritional disorders

such as vitamin B12 or vitamin E deficiencies. Multiple sclerosis is another acquired

cause for ataxia; lesions in the cerebellum that are mediated by the immune system, with

symptoms showing up between 10-50% of cases (Marsden & Harris, 2011) .

Clinical Manifestations & Differential Diagnosis

Cerebellar ataxia may be manifested distinctly in recognizable sign of dysmetria,

or an inability to scale the distance a movement will make, as patients may overshoot or

undershoot targets, typically seen in performance of a finger-to-nose (FTN) test. The

former is known as hypermetria, and it is more pronounced when the movement is made

quickly with increased inertia, while the latter, known as hypometria is typically

produced with slower movements (Umphred, 2007). Dysmetria may occur in both

proximal and distal joints, as patients may take varying paths between successive

attempts.

In addition, patients may exhibit a disordered coordination between the head,

trunk, and legs while having difficulties in multi-joint movements, known as dyssynergia.

Specifically, the issue stems from a lack of range for those limbs or an inability to move

in the desired direction. Patients will have problems with sequencing segments to move

in succession, because they are unable to compensate for torques among limbs that

interact with others during movement (Marsden & Harris, 2011) .

Oculomotor deficiencies may occur with these patients. Saccades can be slowed

and dysmetric, leading to choppy pursuit when trying to follow a target (Umphred, 2007).

In progressive disorders, a downbeat nystagmus may present that leads to an illusion of

oscillation of the surroundings (Marsden & Harris, 2011) . The most common form of

nystagmus is gaze-evoked nystagmus, where it occurs towards the end ranges of lateral or

vertical gaze. Moreover, the vestibule-ocular reflex suppression could be impaired or

absent, meaning patients cannot maintain steady vision during rapid movements of the

head and body (Manto, 2013).

With respect to generating force, they may find it difficult to coordinate rapidly

alternating movements. Known as disdiadochokinesia, this condition causes impairments

in actions that include quickly switching between supination and pronation or shifting

from plantar flexion and dorsiflexion. Patients will demonstrate slower speeds with these

actions and may have inconsistent patterns. It has been thought that disdiadochokinesia

is caused by an inability to coordinate the timing of stopping the agonist muscle before

firing the antagonist (Umphred, 2007). Another symptom is a loss of check and rebound;

patients will receive an isometric resistance to a limb such as the forearm. When the

force is released, there is pronounced displacement of that body part that might cause a

loss of balance or injury (Manto, 2013). Associated with these broader motions, precise

gripping actions that require maintenance of a constant level of force may be difficult for

cerebellar ataxic patients. For instance, handwriting is typically affected, as patients will

produce more errors with increased oscillations, with increased writing times (Fujisawa

& Okajima, 2015) .

Patients may also exhibit a kinetic tremor that presents only during initiating of

voluntary muscle movement, antithetical to the resting tremor seen in Parkinson’s

disease. These tremors are usually seen more often in proximal musculature and will

typically occur in low frequencies (Manto, 2013). A subset of a kinetic tremor is an

intention tremor; this occurs towards the termination of movement whereby a person will

use visual feedback to correct movements to reach a target.

Another symptom is more of a compensatory measure; patients will break down

multi-joint movements into simpler steps, a phenomenon known as movement

decomposition. For instance, if patients are asked to touch a tester’s finger in front of

them, they may first flex a shoulder before extending an elbow, as opposed to performing

it in one fluid motion. Often there are errors associated with directions and rates if

patients engage in slow multi-joint movements due to this lack of synergy (Grimaldi &

Manto, 2012) .

Patients will also typically demonstrate a wide base of support with increased

body sway due to postural instability both in static and dynamic positions. Moreover,

they will have difficulty in righting themselves after being perturbed via diminished

postural responses. While moving extremities, they will also have poor control of

equilibrium. The amount of sway will decrease depending on the region of damage;

anterior cerebellar lobe damage is characterized by high velocity and low amplitude

anterior to posterior postural sway, while vestibulocerebellar damage leads to low

frequency but high amplitude sway without a usual direction (Umphred, 2007).

Functionally, a patient may find it difficult to ambulate because of high variability

in spatiotemporal parameters. During gait, patients with cerebellar ataxia will tend to

have increases in stride width and a reduction in cycle duration compared to healthy

controls (Martino et al., 2014). In addition, stride lengths will be reduced, as foot

placement and swing through are not as uniform. Cerebellar ataxic patients have a

tendency for increased temporal variability in fast and slow walking speeds, but normal

for preferred walking speeds (Schniepp et al., 2012). It has been found that those

individuals will have significant changes in intersegmental coordination associated with

and inability to adjust for perturbations of balance, while concurrent cognitive tasks

during ambulating may also cause impairment because of the cerebellum’s involvement

in memory (Ilg & Timmann, 2013) . Stopping and turning at increased speeds will also

present as major challenges.

Finally, patients with cerebellar ataxia will find it difficult to learn new motor

behaviors such as balance recovery or novel gait patterns; they are forced to use other

means to handle new task demands, including consciously thinking about movements.

Motor learning driven by the cerebellum is usually successive, as repeated practice will

rectify learned errors. With poorer automatic adaptive abilities, individuals will find it

difficult to walk in different surfaces (wet versus dry). Moreover, cerebellar ataxic

patients will learn movements more slowly because of a lack of predictive control; they

may have unimpaired abilities to make reactive changes but fail to make feed-forward or

predictive corrections (Bastian, 2006).

Four distinct categories must be examined before a diagnosis can made for ataxia:

1) topological level of nervous system involvement; 2) focal versus non-focal extension;

3) progression rate; and 4) age of onset (Manto, 2013). If other nervous structures are

involved, then compensatory mechanisms may be precluded from being used in the

rehabilitative process. Moreover, if a condition is hereditary, there is an expectation that

a patient will worsen over time and have decreased recovery potential. Tests to be used

in the upper extremity include the aforementioned FTN test, alternating supination-

pronation test, and hand or finger-tapping test. For the lower extremity, the movement of

the heel on the contralateral shin and the dorsiflexion-plantar flexion tests are useful.

Tests should be performed bilaterally and with multiple trials. Tests should also be

conducted under eyes opened and eyes closed conditions, as visual feedback may

improve quality of movement. Balance measures should also be used, including the Berg

Balance Scale (BBS), Mini-Best Test, and Romberg Test.

Specific standardized rating scales for cerebellar ataxia severity have been

developed to evaluate as well as assess the progression of the disease. They can also be

used as outcome measures to determine the benefit of therapeutic interventions. One is

the Scale for the Assessment and Rating of Ataxia (SARA), shown to be applicable for a

heterogenic group of individuals. Divided into eight items yielding a maximum of 40

points, SARA’s internal validity, inter-rater reliability, and test-retest reliability were

proven in a study of 64 ataxic patients (Weyer et al., 2007). It has gained preference

among clinicians for its brevity. An erstwhile standard known as the International

Cooperative Ataxia Rating Scale (ICARS) has demonstrated good inter-rater reliability

(Storey, Tuck, Hester, Hughes, & Churchyard, 2004) ; it is comprised of 19 items divided

into four subscales based on the premise that different anatomical regions of the

cerebellum house separate functions: 1) posture and gait; 2) limb ataxia; 3) dysarthria; 4)

oculomotor disorders; a maximal score of 100 represents the most severe cerebellar

dysfunction (Manto, 2013). Though valid, ICARS has been shown to have redundancies

between sections (Schmitz‐hübsch et al., 2006).

General Medical Management

Ataxia may be managed via different means, depending on the causes. For

instance, if alcohol or another toxin is implicated, then detoxification is an important step

to initially treat (Ramirez‐Zamora, Zeigler, Desai, & Biller, 2015) . Among inherited

conditions, drugs such as Vitamin E may be provided to patients experiencing ataxia

because of a metabolic deficiency caused by a mutation of a transfer protein on a

chromosome. However, current literature suggests that other pharmacological

interventions have not demonstrated clinical effectiveness to treat hereditary ataxias,

although secondary features of the condition including depression and Parkinsonism may

be addressed with conventional medicinal standards (Revuelta & Wilmot, 2010) . One

case study found that transcranial magnetic stimulation for a 62 year old with probable

idiopathic late-onset cerebellar ataxia resulted in improvements in a timed up-and-go test,

in addition to kinematic variables such as gait speed and stride duration variability

(Farzan et al., 2013). Still, physical therapy has emerged as the primary means to restore

or reduce symptoms, whereby interventions are meant to activate and demand control

mechanisms that challenge patients in maintaining control and to coordinate multiple

joints. Further, patients would benefit from training to use visual, somatosensory, and

vestibular inputs to preserve patient abilities to react to unforeseen situations and avoid

falls. Some principles that are important in training include the ability to train small

amounts of movements for numerous repetitions and to make the movements have

functional relevance with activities of daily living.

Implications for PT

It is important to note that not all the tests used to test for cerebellar signs are

specific to etiologies solely cerebellar in nature; they are merely sensitive. In addition,

the potential benefit of PT depends on the nature of the lesion. For instance, ataxias

degenerative in origin will be difficult to manage because the entire cerebellum is

affected; continual deterioration is expected over time. In contrast, damage from a stroke

to an isolated section of the cerebellum bodes well for recovery because of

neuroplasticity and the ability for supplemental structures to compensate; in this scenario,

dramatic improvement can be attained. Depending on the level of deterioration, patients

may be suggested to replace multi-joint movements with slower movements with

sequential single joint movements or to train themselves with more cognitive strategies to

adjust to different movement conditions.

Regarding the specific PT program to adhere to, therapists may couple clinical

interventions with a detailed home exercise program. One study found that significant

improvements were seen in the Dynamic Gait Index (DGI) as well as better stride lengths

and walking speed following a 6-week training period utilizing exercises designed to

challenge dynamic and static balance (Keller & Bastian, 2014) . If free standing and

walking is not feasible, treadmill training with weight support via a harness has been

shown to possibly contribute to an increase in walking ability in a formerly non-

ambulatory ataxic subject (Cernak, Stevens, Price, & Shumway-Cook, 2008) . Further,

videogame training has been shown to provide an advantageous motivational factor to

promote compliance while simulating realistic activities; improvements in the SARA for

posture and gait were seen in one case study (Ilg et al., 2012).

Case Scenario & Recommended PT Program

The patient is a 25 year-old female who was referred to physical therapy after

being diagnosed with FRDA. She complains that around a year ago, she began to lose

coordination of her hands eat, write and complete other activities of daily living. She

also felt a loss of sensation in her lower extremities, with problems initiating movement

and in balance. Progressive difficulties led to issues with ambulating in a straight line

and multiple falls. She indicates that she tires easily and is often short of breath. The

patient is currently an office worker at an architectural firm who lives with her boyfriend

in a 5th floor apartment with elevator access. She would like to return to her normal

activities at home and community, including walking without falling and being

productive at work again.

The initial part of the physical therapy program will begin with a review of the

patient’s medical history and profile; in this scenario, she offers additional information

that she has DM II. A thorough subjective assessment will then be conducted, whereby

the location of symptoms will be ascertained with the details listed in the excerpt above.

Next an objective examination will be conducted; her postural assessment reveals a slight

postural tremor and it appears she has a right thoracic scoliosis and bilateral pes cavus.

In addition her sitting and standing balance are both poor in static and dynamic

conditions, requiring moderate assistance to maintain. In her systems review,

integumentary and cardiovascular functions are unimpaired. Her gross muscle strength in

the bilateral upper and lower extremities is 4/5 on a MMT while ROM is within

functional limits for upper and lower extremities, though she demonstrates some tightness

in her bilateral hamstring groups and heel cords. Her light touch sensation is diminished

in her right lower extremity. Knee and ankle jerk reflexes are also diminished at 1+. The

patient exhibits bilateral cerebellar signs of dysmetria, disdiadochokinesia, and intention

tremor in her upper extremities. She demonstrates considerable difficulty in gait, using a

wide base of support without a steady cadence and consistency in her steps. Her transfer

from sit <-> stand requires min assist while supine <-> sit requires close supervision due

to significant difficulties in maintaining her balance. Her vital signs reveal a resting heart

rate of 90 BPM and a blood pressure of 110/80. Her BBS score is 21, with significant

usage of upper extremities for transferring and an inability to reach in a balanced fashion;

her SARA score is 19.

Following the examination, an assessment will determine that the patient has a

problem list that includes functional limitations in gait and ADL due to poor balance and

coordination. The patient has primary impairments in: motor control, gait, locomotion,

balance, posture, muscle performance, and sensation. She currently is functionally

limited in some aspects of self-care, home management, and community activities. PT

goals would be to improve transfers to independent, enable ambulation, and to improve

bilateral lower and upper extremity strength. In addition, more general goals would be to

increase overall endurance and aerobic capacity, improve postural control, and provide

knowledge of behaviors that will foster healthy habits. Therapeutic interventions would

include gait training, balance training, exercises to strengthen musculature, and

instructions to preserve energy. Specific exercises to use include: static standing on one

leg, climbing stairs, whole body movements, fall prevention and recovery, and

movements to treat and prevent contracture. Sessions would focus on training that calls

for increasing demands and progression, either from static to dynamic or simple to

complex joint movements. In case studies that demonstrated considerable progress in

patients with cerebral ataxia following TBI, the following were used: manual resistance

to trunk in various antigravity postures, tandem gait, braiding, and toe walking, and

sitting on unstable surfaces (Sartor-Glittenberg & Brickner, 2014) .

Patient prognosis is determined to be fair because of the patient’s motivation in

resuming activities and in becoming more functional; however, the progressive nature of

her disease may preclude significant improvements. An assistive device such as a

straight cane may be provided as necessary to help prevent falls, with suggestions of

environmental modifications to reduce difficulties in movement. The patient will be seen

six weeks of intensive training of three sessions of one hour each per week. After the

training program, the patient will be re-evaluated with the BBS and SARA scales to

determine whether she has improved.

Phase 1 (Weeks 1-2)

1. Warming up

a. An initial phase to increase endurance of large lower extremity muscles in

a safe position will be beneficial for aerobic conditioning. Patient will

perform approximately 20 minutes of stationary cycling on a recumbent

bike at 70-85% of maximal heart rate to improve cardiovascular endurance

(Maring & Croarkin, 2007) .

2. Balance Training

a. Static sitting on a stable surface

i. The patient will sit on the edge of the mat in short sitting with the

trunk unsupported. She will be asked to hold this position for as

long as possible. Emphasis will be made to encourage usage of the

core musculature to maintain upright and avoid compensatory

movements.

b. Standing on a stable surface (performed in the parallel bars for safety)

i. The patient will stand with feet together, arms across chest, and

without slow head movements. This will be performed with eyes

open and held for 10 seconds.

ii. The patient will stand in a semi-tandem stance and arms across her

chest. This will be performed with a narrow base of support and

held for ten seconds.

iii. The patient maintains a unilateral stance with arms across the

chest. This will be held as long as possible with eyes open for both

legs.

3. Strengthening:

a. Supine hip bridges – the patient will lift herself off the mat using her

gluteal muscles. This will be performed for three sets of 10 repetitions.

b. Sit to stand from the mat – the patient will come into a standing position

with as little upper extremity support as possible. Performed for three sets

of 12-15 repetitions with full ROM and slow pace.

c. Sidelying clamshells with resistance band resistance – the patient will be

lying on her side with a green resistance band around her knees. She will

raise the top leg out into abduction for three sets of 10 repetitions before

switching sides.

4. Coordination:

a. Upper Extremity Coordination while sitting: This routine will be

performed with both arms: 1) The patient keeps arms straight at side and

raise forward and upwards over head; 2) The patient keeps arms straight at

side and raise sideways and upwards over head; 3) The patient lifts arms

alternately with one going up as the other goes down; 4) The patient

straightens arm in front and brings tip of index finger to touch the top of

nose and repeats with other hand; 5) Begin as in #4, but the patient brings

tip of index finger to touch the ear lobe on the opposite side. Repeat with

other hand; 6) The patient lifts arms out and sideways and upwards 90°

and then bring tips of index fingers together; 7) The patient raises arms

sideways and upwards, clapping hands above the head. Then the patient

repeats the same exercise but touches the back of the hands together; 8)

The patient raises arm sideways until shoulder height. Then the patient

moves the arms in circles, starting with small circles and gradually

increasing their size.

b. Lower Extremity Coordination while supine: This routine will be

performed with one leg and repeated with the other leg: 1) Hip and knee

flexion (HKF) while contralateral foot remains on the mat, followed by

hip and knee extension (HKE); 2) HKF, followed by hip abduction, hip

adduction, and then HKE; 3) HKF to 50% of ROM, followed by HKE; 4)

HKF to 50% of ROM, hip abduction, hip adduction, and then HKE; 5)

HKF to a point designated by therapist verbal command, followed by

HKE. The sequence was adapted from Frenkel’s exercises (Krasilovsky,

2015) and will be performed for three repetitions.

5. Gait Training: Patient will initially engage in pre-gait activities in parallel bars to

improve standing weight shifts and forward, lateral, and backward steps. A an 8-

inch step stool will also be presented in front of the patient; she will be instructed

to place one foot on the step and stand up before coming back down eccentrically

on that foot. This will be performed for approximately five minutes.

6. Flexibility Exercises

a. Proprioceptive neuromuscular facilitation (PNF) stretching will be used on

the hamstring group on both lower extremities. While supine, the patient

will be taken into the end range of D1 flexion pattern with the knee

extended for the lower extremity. From there, a contract-relax of the

agonistic quadriceps muscles will be performed for 7 seconds before a

passive 10 second stretch into the new range will be performed. This will

be completed for three bouts. This technique uses reciprocal inhibition

that may provide excitatory input to inhibitory interneurons that synapse

onto the motorneurons of the targeted muscle (Sharman, Cresswell, &

Riek, 2006) .

Phase 2 (Weeks 3-4)

1. Warming up

a. The patient will continue to perform 20 minutes of stationary cycling, with

possible increases in intensity and resistance.

2. Balance Training

a. Dynamic sitting

i. The patient will sit on a Swiss Ball and engage in exercises that

firstly involve sitting for as long as possible without bilateral upper

extremity support. An exercise program with this device has been

shown to improve balance measures in patient populations (Seo,

Yun, Kim, & Lee, 2012) . Then, the patient will perform trunk

rotation with her hands free and perform lateral and

anterior/posterior rolling while reaching out with an outstretched

arm. Each movement will be performed for ten repetitions with

three sets each.

b. Dynamic standing

i. The patient will march in place with arms across the chest with

eyes open. She will attempt to pause as long as possible in

unilateral stance and possibly progress to performance with eyes

closed. This will be done for three sets of 10-second holds.

ii. The patient will stand and perform 360 degree turns

counterclockwise and then clockwise with arms across chest and

eyes open. This will be performed for three sets with an emphasis

of a safe turning speed.

iii. The patient will stand on a foam surface and reach with her upper

extremity to targets designated by the therapist with her feet apart.

The frequency will be 10 targets for each side.

3. Strengthening

a. Lunges – the patient will land on the heel and forefoot of one leg by

flexing the knee and hip until the other knee of the rear leg is almost in

contact with the floor, before returning to a standing position. This will be

performed for three sets of eight repetitions.

b. Sit to stand from mat with weights – the patient will hold a 10 pound

dumbbell against her chest to add resistance while performing these

squats. An emphasis will be made to have controlled motions, especially

during descent. This will be performed for three sets of 8 repetitions.

c. Heel raises – the patient will strengthen her triceps surae by holding onto a

chair and lifting her body weight off the ground. This will be performed

for three sets of 10 repetitions

4. Coordination:

a. Upper Extremity Coordination while seated: The patient will perform the

routine as mentioned in Phase 1 except pausing when instructed to do so

by the therapist.

b. Lower Extremity Coordination while seated: the patient will cross the

right ankle over the left, cross the left ankle over the right. Then she will

cross the right knee over the left knee and cross the left knee over the

right; an emphasis is made to avoid excessive hip rotation. With certain

cones placed in front of her, she then is asked to touch a cone, return to a

position under the seat, before repeating for the remaining cones. This

entire routine will be performed for three repetitions.

5. Gait Training:

a. Straight line: The patient will ambulate with a narrow base of support and

arms at sides. A progression can be made to vary the head movements or

to close the eyes. This will be performed for approximately 3 minutes.

b. Turning: The patient will continue with gait with arms at sides but now

incorporate wide turns to provide dynamic elements. There could be

possible progression in increasing the angle of the turns. The patient will

perform five turns for each side.

c. Gait with perturbation: the patient will walk in on a designated track with

external perturbations provided by the therapist (i.e. pushing) to challenge

her balance. This will be performed for roughly three minutes.

6. Flexibility Exercises

a. PNF stretching by using both the D1 and D2 flexion patterns may now be

incorporated to target stretching for different sides of the hamstring

groups. In addition, more emphasis could be placed on the heel cords

given the increased work in this phase of the therapy program. The usage

of contract relax with contraction of the antagonist musculature may be

implemented.

Phase 3 (Weeks 5-6)

1. Warming up

a. The patient will continue to perform 15 minutes of treadmill walking,

assuming she has progressed enough and possesses the capability of

prolonged walking.

2. Balance Training

a. Dynamic sitting on an unstable surface: while sitting on the Swiss Ball,

the patient may now march with hands on or free. Next, the patient will

perform foot circles with one leg in the air and the contralateral foot

planted to the ground. Finally, the patient may sit on a see-saw board and

alternate raising her hands and feet into the air. This routine will be

performed for five minutes.

b. Dynamic stance: the patient will stand on a wobble disc with either feet

apart or feet together. She will work on weight shifts side to side and

anterior/posterior, trunk rotation, and arm raises. This will be performed

for five minutes.

3. Strengthening:

a. Squats – the patient will perform continuous body weight squats with a 10

pound dumbbell for additional weight for three sets of eight repetitions.

b. Stair negotiation – the patient will walk up steps and be encouraged to use

as little upper extremity support as possible. She will perform three sets of

ascending and descending one flight.

4. Coordination:

a. Upper Extremity Coordination while standing: the patient will perform the

routine as mentioned in phase I except in standing.

b. Lower Extremity Coordination while standing: the patient will perform the

sequence described for phase II now in a standing position for roughly

three minutes.

5. Gait Training:

a. Sideways walking: the patient will lead with one direction with arms at

sides and repeat with the opposite side. The patient may progress to

braiding, where the trailing leg will alternate between being placed in front

or behind the leading leg with each step. This will be performed for five

minutes.

b. Backwards walking: this will be performed with a normal base of support

and with arms at the sides. This will be performed for five minutes.

c. Obstacle negotiation: with cones placed on the floor, the patient will now

perform figure eights around the cones with an emphasis on avoiding

contact. Depending on how challenging this is, the patient will perform

this for eight minutes.

d. Gait with a cognitive task: the patient will respond to yes-no questions at

first and progress to counting or performing arithmetic (Umphred, 2007) .

This will be performed for three minutes.

6. Flexibility Exercises

a. The PNF patterns for D1 and D2 will continue as described in phase II.

In addition, the patient will be encouraged to continue training while at home, with a

focus on improving balance. A Home Exercise Program will be provided to her as seen

in the next page.

Home Exercise Program

These exercises are designed to: 1) Improve your overall balance and coordination. 2) Increase neuromuscular control, strength, and endurance in the muscles around the lower extremity to reduce the risk of falls. For all exercises, do not hold your breath and count aloud the repetitions. Apply ice or a cold pack to an area after these exercises if you feel soreness. Balance/Coordination 1. Tandem stance Objective: Improve overall balance while standing. Position: Standing in front of a chair with arms to support as needed. Procedure: Refer to Figure 1. Place one foot in front of the other. Stand for as long as tolerated. Repeat with the other foot in front. Frequency: 1-2 times per day, 3-5 times per week.

Figure 1

2. Standing on a foam surface Objective: Develop dynamic control of the muscles in the lower extremity. Position: Standing Procedure: Refer to Figure 2. Stand on the surface as long as possible, progressing to narrower bases of support or with eyes closed. Frequency: 1-2 times per day, 3-5 times per week

Figure 2

3. Sitting on an unstable surface Objective: Improve sitting balance in a dynamic position

Position: Sitting Procedure: Refer to figure 3. Stabilize pelvis by engaging the abdominal muscles. Attempt to march on foot off the floor approximately 6 inches. Alternate and repeat. Frequency: 5 repetitions for each foot, 1-2 times per day, 3-4 days per week.

Figure 3

Coordination 1. Arm coordination exercise 1 Objective: Improve coordination of arms Position: Sitting Procedure: Perform the following routine as was demonstrated in therapy:

1. Keep arms straight at your side, raise it forward and upward over your head. 2. Keep arms straight at your side, raise sideways and then upward over head. 3. Keep arms at side and alternate raising one arm while the other arm lowers. 4. Straighten arm in front of you and bring tip of index finger to touch the top of

your nose. 5. Straighten arm in front of you and bring tip of index finger to touch the opposite

ear lobe. 6. Lift arms out and sideways and upwards 90°, then bring tips of index fingers

together. 7. Raise arms sideways and upwards, clapping hands above the head. Repeat the

same exercise, bringing the back of the hands together. 8. Raise arm sideways, shoulder high. Then move the arm in circles, starting with

small circles and gradually increasing their size. Frequency: 1 repetition, 1-2 times per day, 3-5 times per week. 2. Leg coordination exercise 1 Objective: Improve coordination of legs Position: Sitting Procedure: Cross the right ankle over the left, cross the left ankle over the right. Then cross the right knee over the left knee and cross the left knee over the right. Frequency: 5 repetitions, 1-2 times per day, 3-5 times per week. 3. Leg coordination exercise 2 Objective: Improve coordination of legs

Position: Sitting/Standing Procedure: Place a cone in front of the seat. Touch the cone with one foot and then touch the foot back under the seat. Repeat on the other leg. Frequency: 10 repetitions, 1-2 times per day, 3-5 times per week. Strengthening 1. Lunges Objective: Strengthening the muscles around the legs to improve ability to transfer. Position: Standing Procedure: Refer to Figure 4. Take large step forward with one foot and bend at both knees as if driving back knee down toward the floor. Be aware not to let front knee go past toes. Return and repeat with other leg. Frequency: 8-10 repetitions, 1-2 times per day, 3-5 times per week.

Figure 4

2. Squats Objective: Strengthening the muscles around the gluteal and knee areas Position: Standing Procedure: While standing with feet shoulder width apart and in front of a stable support for balance assist if needed, bend your knees and lower your body towards the floor. Your body weight should mostly be directed through the heels of your feet. Return to a standing position. Knees should bend in line with the 2nd toe and not pass the front of the foot. Frequency: 8-10 repetitions, 1-2 times per day, 3-5 times per week.

Figure 5

3. Standing heel raise Objective: Strengthening the plantar flexors while weight loading

Position: Standing against a chair Procedure: Refer to Figure 6. While standing and holding a chair, rise up on your toes as you lift your heels off the ground. Slowly lower yourself to the initial resting position. Once you are able to perform this easily without pain, progress to not holding onto the chair. Frequency: 10-12 repetitions, 1-2 times per day, 3-5 times per week.

Figure 6

References

Alfonso-Loeches, S., & Guerri, C. (2011). Molecular and behavioral aspects of the actions of alcohol on the adult and developing brain. Critical Reviews in Clinical Laboratory Sciences, 48(1), 19. doi:10.3109/10408363.2011.580567

Bargiela, D., Shanmugarajah, P., Lo, C., Blakely, E. L., Taylor, R. W., Horvath, R., . . . Hadjivassiliou, M. (2015). Mitochondrial pathology in progressive cerebellar ataxia. Cerebellum & Ataxias, 2, 16. doi:10.1186/s40673-015-0035-x

Bastian, A. J. (2006). Learning to predict the future: The cerebellum adapts feedforward movement control. Current Opinion in Neurobiology, 16(6), 645.

Cernak, K., Stevens, V., Price, R., & Shumway-Cook, A. (2008). Locomotor training using body- weight support on a treadmill in conjunction with ongoing physical therapy in a child with severe cerebellar ataxia. Physical Therapy, 88(1), 88.

Farzan, F., Wu, Y., Manor, B., Anastasio, E., Lough, M., Novak, V., . . . Pascual-Leone, A. (2013). Cerebellar TMS in treatment of a patient with cerebellar ataxia: Evidence from clinical, biomechanics and neurophysiological assessments. The Cerebellum, 12(5), 707-712. doi:10.1007/s12311-013-0485-8

Friedreich's ataxia fact sheet. (2014). Retrieved from http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm

Fujisawa, Y., & Okajima, Y. (2015). Characteristics of handwriting of people with cerebellar ataxia: Three-dimensional movement analysis of the pen tip, finger, and wrist. Physical Therapy, 95(11), 1547. doi:10.2522/ptj.20140118

Grimaldi, G., & Manto, M. (2012). Clinical and pathophysiological features of cerebellar dysfunction. (pp. 257-278). Oxford, UK: Oxford, UK: Wiley‐Blackwell. doi:10.1002/9781444346183.ch17

Hall, J. E. (. E. (2011). In Guyton A. C. (Ed.), Guyton and hall textbook of medical physiology (Twelfth edition.. ed.). Philadelphia, PA; Philadelphia, Pa.: Philadelphia, Pa. : Saunders/Elsevier.

Ilg, W., Schatton, C., Schicks, J., Giese, M. A., Schols, L., & Synofzik, M. (2012). Video game–based coordinative training improves ataxia in children with degenerative ataxia. Neurology, 79(20), 2056-2060. doi:10.1212/WNL.0b013e3182749e67

Ilg, W., & Timmann, D. (2013). Gait ataxia—specific cerebellar influences and their rehabilitation doi:10.1002/mds.25558

Keller, J. L., & Bastian, A. J. (2014). A home balance exercise program improves walking in people with cerebellar ataxia. Neurorehabilitation and Neural Repair, 28(8), 770-778. doi:10.1177/1545968314522350

Krasilovsky, G. (2015). Frenkel's exercises for motor ataxia. (PT 740 PT Interventions & Prevention)

Manto, M. (2013). Handbook of the cerebellum and cerebellar disorders. New York: New York : Springer.

Maring, J. R., & Croarkin, E. (2007). Presentation and progression of friedreich ataxia and implications for physical therapist examination.(update)(report). Physical Therapy, 87(12), 1687.

Marsden, J., & Harris, C. (2011). Cerebellar ataxia: Pathophysiology and rehabilitation. Clinical Rehabilitation, 25(3), 195-216. doi:10.1177/0269215510382495

Martino, G., Ivanenko, Y. P., Serrao, M., Ranavolo, A., D'Avella, A., Draicchio, F., . . . Lacquaniti, F. (2014). Locomotor patterns in cerebellar ataxia. Journal of Neurophysiology, 112(11), 2810. doi:10.1152/jn.00275.2014

Morton, S. M., & Bastian, A. J. (2003). Relative contributions of balance and voluntary leg- coordination deficits to cerebellar gait ataxia. Journal of Neurophysiology, 89(4), 1844.

Ramirez‐Zamora, A., Zeigler, W., Desai, N., & Biller, J. (2015). Treatable causes of cerebellar ataxia doi:10.1002/mds.26158

Revuelta, G., & Wilmot, G. (2010). Therapeutic interventions in the primary hereditary ataxias. Current Treatment Options in Neurology, 12(4), 257-273. doi:10.1007/s11940-010-0075-8

Sartor-Glittenberg, C., & Brickner, L. (2014). A multidimensional physical therapy program for individuals with cerebellar ataxia secondary to traumatic brain injury: A case series. Physiotherapy Theory and Practice, 30(2), 138. doi:10.3109/09593985.2013.819952

Schmitz‐hübsch, T., Montcel, T. D., Baliko, L., Boesch, S., Bonato, S., Fancellu, R., . . . Klockgether, T. (2006). Reliability and validity of the international cooperative ataxia rating scale: A study in 156 spinocerebellar ataxia patients. Movement Disorders, 21(5), 699-704. doi:10.1002/mds.20781

Schniepp, R., Wuehr, M., Neuhaeusser, M., Kamenova, M., Dimitriadis, K., Klopstock, T., . . . Jahn, K. (2012). Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. Movement Disorders, 27(1), 125-131. doi:10.1002/mds.23978

Seo, B., Yun, Y., Kim, H., & Lee, S. (2012). Effect of 12-week swiss ball exercise program on physical fitness and balance ability of elderly women. Journal of Physical Therapy Science, 24(1), 11-15. doi:10.1589/jpts.24.11

Sharman, M., Cresswell, A., & Riek, S. (2006). Proprioceptive neuromuscular facilitation stretching. Sports Medicine, 36(11), 929-939. doi:10.2165/00007256-200636110-00002

Spinocerebellar ataxia type 1. (2011). Retrieved from http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1

Storey, E., Tuck, K., Hester, R., Hughes, A., & Churchyard, A. (2004). Inter‐rater reliability of the international cooperative ataxia rating scale (ICARS. Movement Disorders, 19(2), 190-192. doi:10.1002/mds.10657

Sullivan, E. V., Deshmukh, A., Desmond, J. E., Lim, K. O., & Pfefferbaum, A. (2000). Cerebellar volume decline in normal aging, alcoholism, and korsakoff's syndrome: Relation to ataxia. Neuropsychology, 14(3), 341-352. doi:10.1037/0894-4105.14.3.341

Umphred, D. A. (2007). Neurological rehabilitation (5th ed.. ed.). St. Louis; St. Louis, Mo.: St. Louis : Mosby.

Weyer, A., Abele, M., Schmitz‐hübsch, T., Schoch, B., Frings, M., Timmann, D., & Klockgether, T. (2007). Reliability and validity of the scale for the assessment and rating of ataxia: A study in 64 ataxia patients. Movement Disorders, 22(11), 1633-1637. doi:10.1002/mds.21544