It has no known cure; thus, most care for the patient with SMA is focused on symptomatic control and preventative rehabilitation. Physical therapy and occupational therapy help play a critical role in maximizing the physical functioning of people with SMA. Physiotherapy mainly consist of exercises to help improve flexibility and overall function, independence and quality of life.

Treatments are done with a focus on the following:

Therapeutic exercises

Therapeutic exercises help children maintain and improve their mobility. These will be tailored to the child’s needs, depending on the severity of their SMA.
They consist of any movement or position one would like to strengthen in order to improve their activities of daily living, for example rolling, reaching, sitting and maybe even walking. These activities are dependent on age, amount of neuromuscular involvement, and developmental stage. Although exercise is important, excessive exercising may cause over fatigue and damage.

Range of motion

Range of motion (ROM) is the amount of movement in our joints. We maintain our ROM through stretching and exercise. If we do not move our joints throughout their full range of motion, our muscles and other soft tissues may get “tight”. This tightness can become permanent and limit movement. We call this a contracture.
Individuals with SMA may be too weak to move their joints throughout their full range of motion. This can put them at risk of developing contractures, which can become permanent and prevent movement. They can cause discomfort, decreased mobility, and impaired flexibility of the associated body part.
The use of splints, braces, standers and active-assisted stretching might be recommended to maintain joint alignment and prevent tightness and contractures. Ankle-foot orthotics worn at night may help to provide prolonged, passive stretching to prevent worsening of ankle plantar flexion contractures.

Weightbearing

Weightbearing can be important for the health of our bones and muscles. Assuming a position that puts weight through our bones, such as standing, may improve bone strength, respiratory and bowel function. This is even true for children who are unable to bear weight independently. These children can be helped into a standing position using a standing device.

Orthotics: Splints/Braces

Orthotics are devices that support and align the foot. Devices vary depending on the amount of support a child needs.

Children with SMA may use a SMO (supramalleolarorthosis) or an AFO (ankle-foot orthosis). These braces are both lightweight plastic designs that fit inside a shoe and help maintain foot alignment while your child is standing or walking. Orthotics are typically custom-fit and can be modified as the child grows and/ or progresses. KAFO (knee-ankle-foot orthosis), HKAFO (hip-knee-ankle-foot orthosis), and RGO (reciprocating gait orthosis) can be used to help with optimal positioning and alignment in standing.

MOBILITY: Wheelchair

In the simplest definition, a wheelchair is a mobile chair. Wheelchairs can either be manual or power. Manual chairs can be manipulated by the individual in the chair or pushed by a caregiver. Power chairs are wheelchairs that are controlled electronically, typically by a joystick. Most commonly this joystick/control panel is located near the child’s dominant hand, however if muscle strength or control is an issue, joystick placement can be modified. Powerchairs may offer children, who cannot manipulate their chair with their arms, the ability to move without help from others. Power mobility can be instituted as early as 18 months of age.

Water therapy/Aqua therapy

When in the water, your body feels lighter and easier to move. The buoyancy of the water is responsible for this. Being in a pool may help to relieve pressure on the joints and makes it easier to perform exercises. This makes water therapy especially beneficial to children with SMA. Your child may be able to move their arms and legs through greater ranges of motion and more often when placed in the water.

Orthopedic care

Orthopedic issues refer to the state of our bones and the associated muscles, ligaments and other soft tissue. Children with SMA, who may be unable to maintain good alignment and/or who have difficulty moving, may be at risk for certain orthopedic issues.

Scoliosis may develop in children who are wheelchair bound due to weakness of the muscles supporting the spinal column. The spine of an individual who has scoliosis may look like a “C” or an “S”, instead of being straight. A curved spine affects our comfort, ability to balance ourselves in sitting and standing, our arm function, and, most importantly, can affect our breathing.

Scoliosis is slowly progressive in SMA and needs to be followed periodically. There are two ways to help. The first is positional curve control. This is any means that puts the spine into better alignment. This can be done with either wheelchair modifications (positioning devices) or bracing with a spinal orthosis to help the child maintain a straight sitting posture. These positional curve controls may improve function, independence, comfort and quality of life and stabilize the spine. As scoliosis progresses, surgery is generally recommended to preserve pulmonary function, improve nursing care, comfort, appearance and overall quality of life. A consultation with an orthopedic doctor is recommended.

Hip subluxation and dislocation are common problems for non-sitters, sitters, and, occasionally, walkers and can make sitting balance difficult. It may interfere with already compromised respiratory function, and lead to chronic pain. Hip surgery is usually not needed in non-ambulatory SMA patients.

Respiratory care

Respiratory care is often a central focus in the medical management of SMA. Intercostal muscles (muscles supporting the chest wall) may be weak leaving the diaphragm as the primarily breathing muscle. This may lead to decreased respiratory function with lung underdevelopment and difficulty in coughing and clearing secretions. This has the potential to cause recurrent chest infections.

The breathing function can be assessed by pulmonary function testing in children over 5 years. They are asked to blow into a tube that measures their lung capacity.

Chest physiotherapy may be used to assist the child in clearing secretions. It often includes position changes that allow gravity to help mobilize secretions and keep lungs clear. The individual can be placed in different positions to allow gravity to empty out each lobe/compartment of our lungs. This systematic change of positions promotes postural drainage. It can often be performed at home with the supervision of a therapist.

A cough assist device may also be used at home to help children cough and clear their secretions. Children with SMA rely on their diaphragms to breathe. At night when they are lying down, the abdominal contents push up against the diaphragm and gravity is eliminated, making it harder to take deep breaths. This can cause our lungs to not get enough oxygen and cause carbon dioxide to build up. Children may experience daytime sleepiness or headaches from this. Doctors may help by giving a BIPAP machine, which helps the child breathe by giving extra bursts of air (intermittent positive inspiratory pressure). This assistance allows the child’s breathing muscles to get a rest.

If a chest infection occurs, all the above supportive care can be done at the first sign of any chest problem. Antibiotics and inhalation therapy may also be needed. Sometimes hospitalization is required to best manage and care for the child.

Nutrition is important for good health. In diseases like SMA, malnutrition and a poor diet can contribute to breathing muscle weakness and weakening of the immune system.

A balanced diet should consider several different factors: calorie intake, fats, protein, carbohydrates, vitamins and minerals. Benefits of achieving the correct diet include improvements in quality of life, muscle function and bone health.

Usually dieticians will estimate calorific requirements of individuals with SMA to be 20 to 50% less than other individuals of the same age. Over time, calorific intake reduces compared to the recommended daily intake of healthy individuals; this may be due to reduced movement and therefore using less energy. Even small increases in calorific intake can cause significant weight gain. A nutritionist can help you determine the proper balance of proteins, fats and carbohydrates, recommend foods that your child might better tolerate, and help to make sure your child is taking in enough vitamins and minerals.

A delicate balance must be struck between calories, fat, protein, and carbohydrate intake. It has been seen that many children suffer from calcium and Vitamin D deficiency. Supplementation of both may improve bone strength and help in avoiding fractures.

Nutrition Related Problems Associated with SMA

Type of issue	Description	Challenges	Prevention
Feeding issues	Depending on the type and severity of SMA, feeding challenges include difficulty chewing and/or swallowing and choking issues.	Mouth opening/bite, tongue control, head control and positioning, facial muscle weakness, range/fatigue in chewing muscles.	A semi-solid diet and thickened liquids can be a solution for chewing problems. Orthotic devices and varied seating positions also enhance the ability for SMA patients to eat on their own and may improve swallowing efficiency and safety.
Aspiration	Small amounts of food or liquid enter the trachea (windpipe) instead of the esophagus (tube to the stomach).	Can also occur due to stomach contents flowing back into the esophagus and then into the lungs. Can cause pneumonia and difficulty breathing	Nasogastric tubes (a feeding tube up the nose directly into the stomach) and gastrostomy tubes (a tube surgically inserted through the skin directly into the stomach) may be advised for some individuals with SMA to avoid swallowing problems and to allow more nutrition to be given
Abdominal problems/ discomfort.	Diarrhea, bloating, spitting up, vomiting after meals, bad breath, regurgitation of feeds, and/or abdominal distention	May contribute to undernutrition.
GERD (Gastroesophageal Reflux Disease)	Most common in individuals with Type I, followed by Type II. Scoliosis may contribute to increased abdominal pressure leading to hiatal hernia and reflux gastroesophagitis. Constipation can worsen gastric reflux or respiratory symptoms.	Causes increased danger of aspiration and pain	Give small meals. Avoid irritating foods. Management of reflux typically involves the use of acid neutralizers (magnesium or calcium carbonate) or inhibitors of acid secretion.
Constipation	Infrequent bowel movements. Tied to reduced intake of fiber and/or inadequate fluid intake.	Abnormal gastrointestinal motility (ability to move bowels)	Give high fiber foods. Use of probiotics help maintain a healthy gastrointestinal environment Doctor may recommend some laxatives.
Undernutrition	Difficulty growing and gaining weight is common in children with Type I or possibly in those with Type II.	Increased risk of infection. Difficulty with wound healing. Tendency for pressure sores	Seen mostly in Type 1. Supplements are given. Dietician should be involved when infants are grossly underweight.
Obesity/overnutrition.	Commonly seen in those with milder Type II and Type III. Could increase the burden of care and/or decrease the quality of life.	Increased pain & associated complications with hips and back. Increased risk of diabetes and hypertension	Seen mostly in Type 2 &3. The calorie requirements could be as low as half of what a normal child may need. Contact a dietician.

Counseling is an essential component of support for families of patients with spinal muscular atrophy.
The diagnosis of SMA results in life-changing circumstances. Families can feel extremely stressed, worried, and frustrated throughout the diagnostic journey.

Parents often react initially with shock, disbelief, or denial. Acceptance of the diagnosis follows and many parents, especially mothers, feel guilt at having “given” this disorder to their baby. They are confused and frightened for their child regarding their development and future. Many parents typically feel isolated by these feelings.

At Cure SMA India, we counsel parents to facilitate their acceptance of the child’s diagnosis and adjust their expectations and lifestyle to take care of the child’s needs. The typical symptoms and course of SMA are explained. We build hope by referring to experiences of other SMA children and their parents who are dealing with similar challenges.
From helping to uncover a diagnosis and finding the right doctors and treatments to learning about everyday coping tips and connecting them to similar families, we provide the tools and resources needed to face the challenges of living and thriving with SMA.