Spinal Muscular Atrophy Symptoms and Treatment

 
Each Spinal Muscular Atrophy patient is an individual. The physical and emotional impact of this diagnosis on the patient and family are as different as people themselves. There are some problems, however, which can be anticipated and addressed before they become a threat to the child with SMA.
This is a particularly sensitive issue in children with Type I (and some children with Type II) spinal muscular atrophy. Difficulty with chewing and swallowing may predispose to aspiration and pneumonia. A skilled speech pathologist may be able to identify certain foods which pose a particular hazard to the child. This is often done with the assistance of a special x-ray study called a “swallowing study and cine esophagram”. Direct observation of how a child swallows thin liquids, semisolid and solid foods often guide the therapist and parents to the safest diet. It is critical for children with neuromuscular disease to maintain adequate nutrition; a body deprived of calories and protein will often turn to its own muscles as a source of nourishment. Those children who can not safely swallow liquids or semisolids may be helped with alternative means of feeding including nasogastric (NG) tubes and gastrostomy tubes. The NG tube is inserted through the nose, down the esophagus (food pipe), and into the stomach. Parents can often learn how to place these tubes to assist their children’s nutrition. A gastrostomy tube (or PEG) is inserted by a surgeon or gastroenterologist. These devices allow nourishing liquids to be placed directly into the stomach. Although many parents find the concepts of an NG or PEG tube frightening, they are actually simple means of dealing with a potentially serious problem.

Progressive weakness and immobility of the arms and legs in spinal muscular atrophy patients may predispose to other orthopedic problems including tightness of the joints (contractures). Physical therapists can instruct children and their families in range of motion techniques to help prevent these problems. Night splints of the ankles and wrist may also be useful in preventing contractures. Facilitated independent sitting or standing with a special chair or a standing frame may be an important part of the child’s daily therapy program.

Children with Type I and Type II Spinal Muscular Atrophy virtually never achieve independent standing or walking. Their independent mobility invariably requires wheelchair assistance, Because most children lack the upper body strength to propel a manual wheelchair, a power chair is the logical choice. Many youngsters can be taught to safely operate a power chair when they are only two or three years of age! This enables them to participate in household and outdoor activities with their family and peers.

Children with Spinal Muscular Atrophy Type I and Type II are especially vulnerable to respiratory complications. A regular program of respiratory therapy and breathing exercises may be very helpful for these youngsters. Precautions to avoid illness such as yearly influenza immunization should be given to most of these youngsters. The most emotionally charged issues in the management of children with SMA concern whether or not to initiate aggressive mechanical support when the breathing muscles begin to fail. Although the medical options are reasonably simple, the emotional turmoil of placing a child on a “breathing machine” is invariably painful for parents. Although many parents (and physicians alike) carry an image of a mechanical ventilator as a huge and unwieldy device, advances in technology have made ventilator use considerably easier and more convenient. Less invasive means of dealing with respiratory problems include many options. Parents should be trained in simple chest physiotherapy to help tide youngsters through their usual “coughs and colds”. Because of difficulty with coughing, even a simple cold may result in saliva and mucous obstructing a child’s airway. Techniques of postural drainage and chest percussion may prevent this complication.

Some children benefit from supplemental oxygen usually delivered through a small nasal tube. This is often helpful at night. Before initiating oxygen treatment, however, it must be determined that the brain is not using low concentrations of oxygen in the blood to determine how rapidly a child must breathe. Some of the normal regulation of breathing may be altered in children with chronic neuromuscular diseases. The decision to use supplemental oxygen should, therefore, be preceded by an evaluation by a pulmonary specialist.

Although the “standard” means of mechanical breathing support involves the surgical placement of a tube in the wind pipe (trachea), other less invasive means of breathing support are now being used. This includes devices termed “negative pressure” ventilators and external positive airway pressure support systems. The use of a BI-PAP has been especially helpful for many of our children with SMA. Instead of a tracheostomy, air is mechanically directed through the nostrils through a firmly, but gently fitted mask. This affords many of the benefits of a mechanical ventilator. It can only be emphasized that the decision to use any or all of these forms of respiratory support are emotionally charged and highly personal. Parents and children would be well advised to speak with other parents who have made this decision and to visit with children who have opted to utilize BI-PAP or tracheostomy based respiratory support

The information on this page was written for Fight SMA by: Robert T. Leshner, M.D., Professor, Neurology and Pediatrics, Children’s National Medical Center.

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