REHABILITATION OF CHILDREN WITH MUSCULAR DYSTROPHIES

The main purpose of muscle dystrophies rehabilitation is to maintain, as much as possible, ambulance, acceptable respiratory capacity, retraction of musculo- tendon recurrences and scoliosis.

The management of these conditions is done through a multidisciplinary approach, the patient and his family occupying a central place.

Ideally are part of the team, a pediatric neurologist, orthopedist, anesthetist, geneticist, pneumologist, gastroenterologist, rehabilitation specialist, kinetotherapist, ortezist, cardiologist, nutritionist, occupational therapy specialist, psychologist, nurses.

The patient will need periodic examinations for complete assessment of health status, establishing the next treatment, eventual appreciation, or surgery, kinetotherapy, orthosis. All the measures proposed by the multidisciplinary team aim to prolong life and increase its quality.

Rehabilitation problems are multiple and important in muscular dystrophies, aiming at maintaining ambulation for as long as possible, obtaining acceptable respiratory capacity, avoiding or delaying the occurrence of musculotendinous retractions and of scoliosis.

Also, after surgical interventions for stabilizing scoliosis or interventions on tendon retractions, physiotherapy needs to rebuild the motor potential, contributing to the psychological balance of both the patient and of his / her family.

There are three acknowledged stages of rehabilitation:

a. The phase of ambulation,

b. Transition phase with loss of ambulation,

c. Phase of dependence on wheelchair.

Problems of the child with muscular dystrophy:

1. Decrease in muscle strength,

2. Decrease in joint amplitude,

3. Dysfunction of ambulation,

4. Decrease in functional ability,

5. Impairment of respiratory function,

6. Emotional trauma,

7. Progressive scoliosis,

8. Pain.

Consequently, there are five main elements in treatment management:

I. Prevention of deformities,

II. Prolongation of respiratory functional capacity,

III. Improvement of pulmonary function,

IV. Support for the family,

V. Pain control.

Duchenne muscular dystrophy (DMD) particularly affects the muscles of the pelvis and the lower limbs (MI), while the myopathies of the pelvic girdle affect the pelvic muscles, those of the scapular girdle, followed by the muscles of the thighs.

In facio-scapulo-humeral myopathy, those affected are the muscles of the face, shoulders, arms, and sometimes of the lower limbs.

In the growing child, skeletal imbalance and malformations cause important deformities of the spine.

PHYSICAL THERAPY

  Lack of motility in patients contributes to bone demineralization, with the risk of fractures, joint and muscle pains.

Physical therapy must maintain muscular and articular suppleness, prevent musculotendinous retractions, delay the loss of muscle strength. Exercises should include abdominal muscles, extensor and abductor muscles of the hip, knee extensors, dorsal flexors of the foot.

In the upper limbs, deficit of the scapular belt muscles (Meryon sign), contracture of the elbow flexor muscles, and deficiency of the abduction muscles of the arm have been noted.

For retractions concerning the area of the hand, passive mobilizations, elongations of palmar anterior cubital, finger flexor muscles are made.

Attention should be paid to the neck flexors deficiency – the child cannot flex his/her head off in DD.

The physiotherapist must first be concerned about the correct posture of the patient, especially when he spends most of the time in bed or in the wheelchair.

The sitting position should be carefully corrected, horizontally, because its asymmetry favours scoliosis.

The position in VD over a considerable length of time favours the flexion of the thighs.

Correct vertical positioning prevents the occurrence of a hip flexion due to the retraction of the anterior right and of the fascia lata tensor muscle and the insufficiency of the gluteal muscles.

For the assessment of a hip flexum, the Thomas test is used, and for the retraction of the fascia lata tensor, the Ober test.

Stretching (elongation) and correct posturing are very important factors of treatment [2, 14].

These passive mobilizations aim at muscle elongation at a very slow rate, prolonging the movement. In addition, each joint is maintained in extension for a few minutes to preserve its amplitude of movement, muscle and joint flexibility.

10 to 15 stretching sessions of 15 seconds each are prescribed, preferably 2 times a day [2, 16, 20, 22].

Lumbar lordosis increases as the gluteus maximus becomes more affected, influencing the patient’s stability, moving the centre of gravity posteriorly.

Insufficiency of the gluteus medius contributes to the instability of the basin during the walking support phase; the wobbly walking appears, the support basis widens. The Trendellenburg test becomes positive.

Under these circumstances, the stability of the coxofemoral joint is passively secured by the anterior structures of the hip joint, especially by the anterior iliofemoral ligament.

The treatment program should combine stretching with night-time orthotics, a therapeutic attitude that has demonstrated the prolongation of ambulation over time.

Following the surgical interventions performed in these cases (elongation of the Achilles tendon, fasciectomy, transposition of the posterior tibial tendon, percutaneous tenotomies), physiotherapy seeks to resume orthostatism and walking as soon as possible.

It is recommended to maintain orthostatism and to walk for 3-5 hours a day.

If the patient cannot walk, it is recommended to put him/her in the verticalizer appliance for 1 hour a day with the spine in extension, the centre of gravity being in front of the coxofemoral joint. Verticalization delays the occurrence of bone fragility and helps sparing the tissues involved in the sitting positioning.

If ambulation becomes difficult, the child falls frequently and the wheelchair will be used.

Ideally, the patient should use the wheelchair before the total loss of ambulation, when the child may travel long distances by propelling the wheelchair with his/her own forces.

When the force decreases and the child will no longer be able to move the vehicle manually, it would be useful to have the an electric chair (not yet discounted by the National Health Insurance House).

Due to the lack of mobilization of the patient in the wheelchair, micro-circulation disorders occur, a stasis of venous blood. Therefore, regular patient verticalization is indispensable and, in the armchair, the LL will be lifted horizontally to favour venous return and avoid fixation in genu flexum. Lymphatic drainage is also beneficial.

Quoting Brooke, the loss of ambulation occurs at 2.4 years (between 1.2 – 4.1 years) after the patient can no longer climb the 4 standard stairs (15.24 cm in height) in 5 sec. and 1.5 years (0.6 – 2.2 years) if he/ she exceeds 12 sec. in climbing the stairs [3].

With the development of a scoliosis, it is necessary to install a lateral support in the wheelchair at the level of the convexity.

The wheelchair should be modified according to the vertebral arthrodesis for the support of the UL, which will favour self-feeding or toothbrushing etc., taking into account the fact that the flexion deficit of the torso has to be compensated.

Generally, in dystrophinopathies, the duration and frequency of rehabilitation sessions vary depending on the patient’s fatigability. Sessions are performed at the limit of fatigue, with breaks between rounds.

Drills such as resistance exercises, strength exercises, ergometric bicycle, stepper are contraindicated, as well as massage with kneading, percussion, pushing procedures. Only effleurage or slight sliding pressures, which improve blood and lymphatic circulation, are allowed. These pressures are relaxing, especially as 40% of patients suffer from muscular and joint pain [8].

Walking on a treadmill is generally not indicated. At the most, in patients who have not lost walking, in order to follow the correct plantar run.

In terms of strength exercises or resistance exercises, it has been demonstrated that they diminish the dystrophin, increasing the damage to the muscle fibre. There is also an increase in intracellular calcium resulting in the death of the muscle cell.

Swimming is allowed to increase muscle fatigue resistance by increasing the proportion of Type 1 fibres.

Balneotherapy at 30° – 35° can precede the session of physiotherapy, having a relaxing effect, increasing suppleness.

One can also prescribe infrared rays before physiotherapy session with analgesic, vasodilatory purpose.

Some French authors prescribe low-intensity electronic stimulator with a frequency of 8 Hz. It is not intended to increase muscle mass, but to maintain existing muscle potential, taking into account that unused muscle quickly loses its strength.

ORTHOTICS

  It complete physiotherapy aiming at a good positioning to prevent limb deformations, facilitating walking and certain movements.

Orthoses can be designed for the night or for the day depending on the deformations and the didease in question.

Orthoses for UL: hand-wrist orthosis; hand or devices for extension in the case of retraction of the fingers.

Orthoses for LL: anti genu flexum orthoses, fixed orthoses for equin or varus echin foot, walking orthoses to be worn in shoes, knee-ankle-foot orthoses.

Fixed foot orthoses for the night effectively prolong the ambulation in the case of DMD [16].

With regard to the orthopaedic footwear, this should be done with special care not to cause embarrassment, pain or other skin problems.

An alternative to surgical correction in some patients is the serial plaster casting [9]. It is very important for the patient to maintain the ambulance with a plaster device that will be changed weekly or twice a week, so that the plastering period should be as short as possible.

In case of the loss of ambulation, the orthopedic footwear will still be worn.

The scoliosis corset in DMD is an orthosis challenged by many authors, preferably to be replaced by adding a posturing device made of the polyurethane foam to the wheelchair.

SURGICAL TREATMENT [8]

  1. Interventions before the loss of ambulation:

a) Extensive early intervention (release of hip contracture, of hamstrings, of Achilles tendon, transfer of tibialis posterior muscle).

b) moderate approach (release of hip abductors)

c) minimal approach (correction of contracture in equin)

2. Interventions after the loss of ambulation:

a) rehabilitative approach to restoring ambulatory capacity.

b) palliative approach (correction of varus-equin) for anti-algic purposes or to enable the patient to put on footwear.

After the loss of ambulation, if rapid intervention takes place within 3-5 months, ambulatory capacity may be restored. After 6 months, walking can not be resumed.

With regard to posterior vertebral arthrodesis for the correction of scoliosis, intervention is performed at a 20°-30° Cobb angle, a vital capacity of > 35% and life expectancy should be ˃ 2 years.

It has not been proved that this intervention would slow down the decline in respiratory function, but the balance of the pelvis is noticeable, which improves posture.

In any case, for such surgery, the preoperative assessment requires cardiovascular, pneumological, anaesthesiological, radiological, paediatric consultations.

Following the surgical operation, mobilization will be as fast as possible in orthostatism or in the wheelchair, and it will be strictly supervised by an experienced physical therapist.

Complications may occur after vertebral arthrodesis, such as loss of self- feeding due to stiffening of the spine, respiratory complications, bleeding, infections, degradation of instrumentation.

In the case of fractures due to osteoporosis, it is possible to stabilize them by non invasive percutaneous techniques (elastic stable intra medullary nail), which allow mobilization in the wheelchair at 2-3 days postoperatively and also a reduction of postoperative complications.

RESPIRATORY PROBLEMS

  Patients with DMD show significant impairment of respiratory muscularity and a decrease in pulmonary compliance.

For better ventilation, respiratory physiotherapy is indicated.

1. Passive mobilizations

– combat joint retractions,

– shape the thorax,

– must be painless [12, 17, 18].

The thorax and abdomen are gently compressed from the moment of inspiration to allow further the entry of a volume of O2-rich air (it is the acceleration of the expiratory flow) [21].

2. Active mobilizations

– Patient inspiration and expiration movements against the therapist’s hand

– breathing into a spirometer, into a wind musical instrument, into a candle.

– apnoea exercises [7].

Active work (eventually helped by the therapist) contributes to the maintenance of the strength of the muscles involved in breathing and to joint maintenance.

At least 3 active mobilization sessions and 2 to 5 passive mobilization sessions are recommended weekly. It is important that the family is trained to work with the child on a daily basis.

3. Non-invasive ventilation occurs when O2 saturation drops below 94%. It is installed either during the day with a mouthpiece, or during the night with a nasal mask for 8-16 hours [3,4,10].

4. Assisting cough for evacuating bronchial secretions.

For the cough to be effective by evacuating the secretions, the expiratory flow rate should be greater than 270 l / minute, which is impossible to reach by these patients.

Assisted cough is recommended when CV ˂ 1500 ml (12)

– Drainage postures are used,

– Heimlich manoeuvre, [4,13]

– Accelerating the expiratory flow, especially in young children,

– Manual or mechanical vibrations,

– Mechanical bronchial drainage with positive pressure ventilation devices.

– Mechanical assistance with an insufflation

– exsufflation device [4].

WEIGHT CONTROL

  The tendency to obesity exists in these patients due to the loss of ambulation and corticosteroid treatment. Under these conditions of being overweight, the transferability of the patient decreases considerably, self-care as well.

Of course, it is easier to prevent becoming overweight than to impose a diet. It is therefore recommended to check weight regularly and train family members [11].

The physical therapist comes into contact with the patient most of the time and has the task of advising him / her with regard to food.

There will be 3 regular meals per day containing mainly cereal products, fruits, vegetables, potatoes, – limiting the consumption of fat, pastry, chocolate, acidified sweet juices, and cold meats.

In order to favour correct intestinal transit, besides fibre rich diets and sufficient hydration, the abdominal massage is recommended in a clockwise fashion.

Beware of swallowing disorders that can cause a false path for the food. In the last resort, one should resort to the gastronomy tube.

OCCUPATIONAL THERAPY

  The specialist in this area being absent, he is partially replaced by the physical therapist or rehabilitation specialist. His role is especially important for these diseases where motor regression is evident.

The ergotherapist is the person who has to follow the patient’s motor involution intervening from the elements of self-care (food, clothing, personal hygiene, etc.), to special arrangements in the dwelling, modifications of the wheelchair for facilities for ischiatic support, armrests, head restraint, table for work.

Sometimes changes are needed in the home such as access to pieces of furniture, changing of the doors, making a tilted plane.

The therapist always seeks the comfort meant to ease the life of the patient.

ASSISTANCE OF THE PSYCHOLOGIST AND THE PSYCHIATRIST

  These specialists have an important role to play in counselling and supporting the patient and his/her family, given that this disease has a major psychosocial impact on the patient and the family.

Interventions will focus on psycho-education, psychological recovery, psychotherapy [8].

ASSESSMENT

  Together with the neurologist and the rehabilitation physician, the physical therapist has to perform an important task, namely to assess the patients every six months, especially because s/he often knows well the patient s/he has worked with.

That is why it is necessary to instruct therapists carefully on the assessment scales, which will mirror either constancy or motor regression: – The 6-minute test on a 25m line.

– Test of measuring the motor function for neuromuscular disorders (Lyon).

– Vignos functional rating scale (for lower limbs).

– Brooke score (for upper limbs).

– The 4-stair climb test (˂ 5 sec., the stairs being15.24 cm high, the patient is allowed to use the railing for help).

– Muscle Strength Testing (0-5).

– Goniometry.

– Pain scale (for older children).

In the case of muscular dystrophies, a multidisciplinary team, including ideally a paediatrician, a neuro- paediatrician, a geneticist, a pneumologist, a gastroenterologist, an orthopaedist, anaesthetist, rehabilitation physician, physical therapist, occupational therapist, psychologist, psychiatrist, will be acting in the investigation and treatment.

Ideally, rehabilitation assistance to these patients should be done at home, since travelling is often impossible.

We hope that in the future the National Health Insurance House will provide this desideratum that exists in all civilized countries.