**6.2 Assessment of posture**

Routine posture examination should be performed on a regular basis. Posture examination includes examination of resting posture and changes in posture that occur with movement. Examination for the presence of scoliosis is essential especially for patients who are wheelchair dependent.

#### **6.3 Muscle strength**

Assessing muscle strength in children can be difficult, because the results depend on the patient's effort.15 Strength deficits in children with SMA can be assessed using manual muscle testing (MMT) or hand-held dynamometer. Manual muscle testing is the most

The course of SMA is relentlessly progressive. Prognosis varies according to the age of onset, type of SMA, and the maximum function achieved. The age at the time of the onset has the strongest relationship to prognosis. It appears that the earlier the onset of the disease, the faster the progression and the poorer the prognosis. The current prognosis for children with type I SMA is very poor, with the death usually occurs in the first two years of life as a result of respiratory failure caused by respiratory complications. Some children with SMA type I can survive beyond two years of age with the use of ventilator assistance.1 The prognosis of type II SMA is extremely variable. Patients with type II SMA have short life span; survival into adulthood is possible with aggressive respiratory care. Majority of patients with type III SMA remain independent in ambulation throughout adult life. Patients with Type III SMA are expected to have normal life expectancy. Patients with the onset begins before two years of age continue to ambulate until an average of twelve years of age. Patients with the onset after two years of age continue to ambulate throughout the

Since assessment is important for guiding clinical management and for evaluating therapeutic outcomes, thorough assessment of patients with SMA is essential. Assessment should include regular assessment pertinent to children with neuromuscular disorders such as assessment of posture, muscle strength, performance, range of motion, gait assessment, respiratory assessment, and quality of life measures. Assessment of functional status and level of disability using standardized outcome measures should be also

Active and passive joint range of motion can be assessed using goniometry. Functional range of motion, muscle length, and soft tissue flexibility should be assessed using standard methods. Assessment of joint integrity, range of motion and muscle flexibility should be done periodically to monitor development of contractures, particularly when the patient

Routine posture examination should be performed on a regular basis. Posture examination includes examination of resting posture and changes in posture that occur with movement. Examination for the presence of scoliosis is essential especially for patients who are

Assessing muscle strength in children can be difficult, because the results depend on the patient's effort.15 Strength deficits in children with SMA can be assessed using manual muscle testing (MMT) or hand-held dynamometer. Manual muscle testing is the most

**6.1 Joint integrity, range of motion and muscle flexibility** 

**5. Prognosis** 

adult life.25

included.

loses ability to ambulate.

wheelchair dependent.

**6.3 Muscle strength** 

**6.2 Assessment of posture** 

**6. Assessment** 

widely method to assess muscle strength in clinical practice. It is a reasonably easy and inexpensive in measuring muscle strength in patients with SMA, but it does not allow grading small changes in muscle strength. A handheld dynamometer can be used to quantify muscle strength. Using a dynamometer is easy and comfortable and allows for measuring small changes in strength over a continuous range.19

#### **6.4 Respiratory function**

Pulmonary function tests are parts of the regular assessment in patients with SMA to monitor changes in respiratory status. Routine assessment of respiratory function includes complete pulmonary function tests, including sprirometery, lung volumes, and respiratory muscle function tests.30 Assessments of cough effectiveness and breathing pattern are important for the non-ambulatory patients or patients who are too weak or too young to perform pulmonary function testing.30

#### **6.5 Gait**

No disease-specific gait test or measure exists for patients with SMA. Description of gait deviations and safety and stability during walking should be included as part of routine gait analysis. The 10-Meter Walk test can be used to measure gait speed. The Six Minute Walk Test or the Two Minute Walk Test can be used to measure endurance during gait.

#### **6.6 Measurement of functional status and quality of life**

Examination of functional status including examination of functional mobility skills and activities of daily living is an important consideration. Several clinical outcome measures can be used to measure functional outcomes in patients with SMA including generic measures and disease-specific measures. Generic outcome measures commonly used in patients with SMA include the Gross Motor Function Measure, the Test of Infant Motor Performance, the Alberta Infant Motor Scale, the Wee Functional Independence Measure, the Motor Function Measure, and the EgenKlassifikation Scale. Disease-specific outcome measures include the Hammersmith Functional Motor Scale, the Modified Hammersmith Functional Motor Scale, the Expanded Hammersmith Functional Motor Scale, the Children's Hospital of Philadelphia Test of Strength in spinal muscular atrophy, the Infant Test for Neuromuscular Disease, and the Spinal Muscular Atrophy Functional Rating Scale. Selection of the outcome measures to be used is based on age of the patient, patient's functional level, aspects of function being measured, ease of administration, and burden imposed on the patient. The Pediatric Quality of Life Inventory (PedsQL) instrument can be used to measure quality of life.

#### **7. Management**

No specific therapy is currently available for SMA. Treatment is usually supportive, and may include physical therapy, occupational therapy, nutrition, orthotic management, and possibly surgical intervention. Appropriate recommendations are made on the basis of each patient's presentation and functional level.15 The most important goal in the management of the patients is to achieve maximal independent living with maximized mobility, and to

Spinal Muscular Atrophy 227

Exercise strategies for young children and infants may include practicing developmental skills. This includes activities to facilitate head and trunk control; floor mobility skills such as rolling and creeping; facilitation of weight shift and weight bearing and transitions between positions; and facilitations of upright positions and skills such as sitting, standing and walking as appropriate.3 For the less involved and older individuals, exercise strategies include practice functional activities such as standing and walking, and gentle aerobic

Weakness and difficulty in moving independently in patients with SMA contribute to physical inactivity and limited participation in exercise programs. The consequences of physical inactivity are particularly detrimental, could contribute to secondary impairments and may lead to additional decline in functional status. Recent evidence suggests that engagement in physical activities helps improve physical functioning in children with disability. Participation in physical activities may promote physical functioning, quality of

Participation in physical activity may include participation in recreational and sports activities. Recreational programs that can be beneficial include swimming, cycling, and riding when appropriate.6 Activities should be selected carefully with the goal of improving functional performance and daily activities, promoting aerobic fitness and preventing complications of inactivity. Activities should be selected based on the age, developmental

Aquatic therapy or hydrotherapy is being used on an increasing basis and has been shown to be beneficial for children with SMA.26 The use of aquatic therapy in SMA may be related to the physical properties of water. The properties of water provide weight relief and postural support, facilitate antigravity movements allowing more freedom of movement, and provide an opportunity to perform activities that may be too difficult to accomplish on land.26 Aquatic exercises provide low-intensity strength training, walking and balance

Infants with type I SMA have poor oral motor control with sucking and chewing and tendency to get fatigued easily during feeding and swallowing. Lack of head control and head support may also affect swallowing. Those children may have difficulty getting enough nutrition and are at risk of aspiration. Some infants may require indwelling nasogastric tube to supplement oral feeding. Gastrostomy may be an option for some

Muscle contractures and orthopedic deformities are common complications among patients with SMA. Contractures and orthopedic deformities occur primarily in type II and type III

children to improve carer satisfaction and quality of life,23 and to avoid aspiration.

exercises, and aerobic training without the fear of fatigue or overwork.

programs.

**7.2 Participation in physical activities** 

life, health, and well-being.

skills, and functional abilities.

**7.3 Aquatic exercises** 

**7.4 Feeding and nutrition** 

**7.5 Management of contractures** 

prevent the development of complications.2,9,13,15,30 Treatment focuses on prevention of complications of severe weakness including restrictive lung disease, orthopedic deformities, immobility, and psychosocial problems.

The multidisciplinary approach is important to assess and address the needs of the patient/family. The multidisciplinary team might consist of neurologist, pediatrician, physiatrist, physical therapist, occupational therapist, speech therapist, nutritionist, pulmonary specialist, orthotist, genetic counselor, social worker, and psychologist. Family education and patient/family centered care are important parts in the management of patients with SMA. Education should include the disease process, associated impairments and complications, physical limitations, functional abilities, prognosis, and expected outcomes.

### **7.1 Therapeutic exercises and strength training**

The overall therapeutic goals are to achieve maximal independence in mobility,15 and to prevent and delay progression of complications. Exercise programs may help to improve and maintain range of motion, maintain mobility, and prevent or slow the progression of contractures, orthopedic deformities and respiratory failure.

Strengthening exercises have been shown to be effective to slow the deterioration of muscle weakness in patients with neuromuscular disorders. Strengthening exercises may prolong ambulation and delay dependence on wheelchair for mobility in patients with neuromuscular disorders including children with Duchenne muscular dystrophy. Strengthening exercises may be used to slow the deterioration in muscle strength. The role of strengthening exercises in SMA is not well established due to lack of clinical trials on the effects of exercise programs and lack of trials critical data to support appropriate exercise prescription. Appropriate exercise recommendations in SMA are based on the patient's presentations and functional status, and therapists' experience with similar neuromuscular conditions. Recommendations regarding strengthening of patients with SMA include precautions and guidelines from other degenerative muscle diseases.7

In patients with neuromuscular diseases, excessive strengthening exercises may contribute to deterioration in muscle strength by increasing muscle degeneration.7 Therefore, excessively strenuous strengthening such as excessive resistive exercises, eccentric exercises, and maximal aerobic training should be avoided. Excessive fatigue and overwork weakness should be avoided, frequent rests and self-initiated rests should be given frequently especially for the weaker patients and patients with decreased respiratory functions. Positioning and support can be used to maximize biomechanical advantage and minimize the effects of gravity. Monitoring with oximetry is recommended particularly for patients with compromised respiratory functions. It is important to monitor responses to exercises such as fatigue, pain, and muscle soreness.

Strengthening exercises for SMA may include low-intensity strengthening exercises, and submaximal aerobic exercise. Since there is no evidence to support traditional strength training for patients with SMA, practicing functional activities and tasks of activities of daily living may be good recommendation for those individuals. These exercises and activities should be designed based on the age, developmental stage, and functional level.

prevent the development of complications.2,9,13,15,30 Treatment focuses on prevention of complications of severe weakness including restrictive lung disease, orthopedic deformities,

The multidisciplinary approach is important to assess and address the needs of the patient/family. The multidisciplinary team might consist of neurologist, pediatrician, physiatrist, physical therapist, occupational therapist, speech therapist, nutritionist, pulmonary specialist, orthotist, genetic counselor, social worker, and psychologist. Family education and patient/family centered care are important parts in the management of patients with SMA. Education should include the disease process, associated impairments and complications, physical limitations, functional abilities, prognosis, and expected

The overall therapeutic goals are to achieve maximal independence in mobility,15 and to prevent and delay progression of complications. Exercise programs may help to improve and maintain range of motion, maintain mobility, and prevent or slow the progression of

Strengthening exercises have been shown to be effective to slow the deterioration of muscle weakness in patients with neuromuscular disorders. Strengthening exercises may prolong ambulation and delay dependence on wheelchair for mobility in patients with neuromuscular disorders including children with Duchenne muscular dystrophy. Strengthening exercises may be used to slow the deterioration in muscle strength. The role of strengthening exercises in SMA is not well established due to lack of clinical trials on the effects of exercise programs and lack of trials critical data to support appropriate exercise prescription. Appropriate exercise recommendations in SMA are based on the patient's presentations and functional status, and therapists' experience with similar neuromuscular conditions. Recommendations regarding strengthening of patients with SMA include

In patients with neuromuscular diseases, excessive strengthening exercises may contribute to deterioration in muscle strength by increasing muscle degeneration.7 Therefore, excessively strenuous strengthening such as excessive resistive exercises, eccentric exercises, and maximal aerobic training should be avoided. Excessive fatigue and overwork weakness should be avoided, frequent rests and self-initiated rests should be given frequently especially for the weaker patients and patients with decreased respiratory functions. Positioning and support can be used to maximize biomechanical advantage and minimize the effects of gravity. Monitoring with oximetry is recommended particularly for patients with compromised respiratory functions. It is important to monitor responses to exercises such as fatigue, pain,

Strengthening exercises for SMA may include low-intensity strengthening exercises, and submaximal aerobic exercise. Since there is no evidence to support traditional strength training for patients with SMA, practicing functional activities and tasks of activities of daily living may be good recommendation for those individuals. These exercises and activities

should be designed based on the age, developmental stage, and functional level.

immobility, and psychosocial problems.

**7.1 Therapeutic exercises and strength training** 

contractures, orthopedic deformities and respiratory failure.

precautions and guidelines from other degenerative muscle diseases.7

outcomes.

and muscle soreness.

Exercise strategies for young children and infants may include practicing developmental skills. This includes activities to facilitate head and trunk control; floor mobility skills such as rolling and creeping; facilitation of weight shift and weight bearing and transitions between positions; and facilitations of upright positions and skills such as sitting, standing and walking as appropriate.3 For the less involved and older individuals, exercise strategies include practice functional activities such as standing and walking, and gentle aerobic programs.
