Living With SMA

Spinal Muscular Atrophy (SMA) is one of the most prevalent and devastating genetic disorders of childhood affecting approximately 1 in 6,700 - 10,000 live births worldwide. No cure or drug-therapies currently exist to treat the severe and progressive symptoms of SMA. In recent years, significant progress has been made in the active management and comprehensive care of the disease, including diagnostics/new interventions, pulmonary, gastrointestinal/nutritional, orthopedics/rehabilitation and palliative care.

Management and Treatment of SMA

Care of SMA Patients - Recommended Guidelines

This brochure is based on the Consensus Statement for Standard of Care of SMA patients, a guideline for the care of SMA patients, published in the Journal of Child Neurology in August 2007. The goal of the consensus statement is to serve as a resource for healthcare professionals and establish recommended guidelines for the clinical care, and management of SMA.

The Family Guide to the Consensus Statement for Standard of Care in SMA – was prepared by SMA Advocates for families and patients affected with SMA. It provides an excellent review of the key care recommendations for children and adults living with SMA.

Orthopedic Care and Rehabilitation

Orthopedic issues refer to the state of our bones and the associated muscles, ligaments and other soft tissue. Maintaining proper alignment and muscle balance helps us avoid problems in this area. 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.

One of the most common concerns is spinal alignment. A curved spine affects our comfort, ability to balance ourselves in sitting and standing, our arm function, and, most importantly, can affect our breathing. If an individual does develop a side-to-side curvature of the spine, it is referred to as scoliosis. The spine of an individual who has scoliosis may look like a "C" or an "S", instead of being straight.

Scoliosis may develop in children who are wheelchair bound due to weakness of the muscles supporting the spinal column. Scoliosis is slowly progressive in SMA, and needs to be followed periodically. Doctors will follow this with a physical examination or may ask to obtain x-rays.

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 soft spinal orthosis to help the child maintain a straight sitting posture. The wheelchair modifications mentioned above can range from a simple lateral support that promotes upright sitting to custom molded back support that fits your child's body exactly.

These positional curve controls may improve function, independence, comfort and quality of life. However, since they can typically not prevent progression, they should not be used if they cause discomfort.

Many surgical techniques exist to correct scoliosis. The purpose may be to correct the curve and stabilize the spine. A consultation with an orthopedic doctor is recommended.

Hip surgery is usually not needed in non-ambulatory SMA patients. Other orthopedic concerns can be due to joint contractures. Tendon release is typically not needed unless it can improve function, e.g. allow for the use of a standing device.

Range of motions exercises and positioning (e.g. night splints) may assist your child in preventing joint discomfort and malalignment.

Physical and Occupational Therapy

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 3-4 years. They are asked to blow into a tube that measures their lung capacity.

Chest physical therapy may be used to assist your child in clearing secretions. It often includes position changes that allow gravity to help mobilize secretions and keep lungs clear. Each of our lungs has several compartments that we call lobes. It is important to make sure secretions do not collect in these lobes. The individual can be placed in different positions to allow gravity to empty out each lobe/compartment of our lungs. We can this systematic change of positions 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.

Nutritional care

Nutrition is critically important for maintaining muscle mass, strength and clinical function in patients with SMA. An experienced nutritionist is vital in the management of patients with neuromuscular conditions or metabolic disorders. Read more in this PDF document. Given the differing nutritional challenges faced across the SMA disease spectrum, it is vital that expert nutritional care is sought out and integrated in the management of the disease.

For children with more severe forms of SMA (Types I and II), a nutritional management guide which offers nutritional management tips and recommended guidelines for calorie, fluid and protein requirements as well as, fat intake has been recently published Swoboda, 2010, "Nutritional Care Guidelines for Children with SMA or Neuromuscular Disorders During Acute Illness or Fasting". You may also refer to the "Guidelines for Gastronomy Tube Feeding for Infants with Neuromuscular Disorders."

For children with SMA Type III and higher functioning SMA Type II patients, obesity is a significant concern. Based on work performed at the Columbia University SMA Clinical Research Center and collaborators in the Pediatric Neuromuscular Clinical Research Network (PNCRN), we recommend that patients with SMA maintain an optimal body max index (BMI) (weight in Kg/height in m, squared) of 5th to 10th percentile for age (Sproule et al. 2009, 2010, links).