Information: about Spinal Muscular Atrophy

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What is Spinal Muscular Atrophy?

  • Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease that causes muscle weakness and wasting (atrophy), primarily in the muscles in close proximity to the spinal cord. SMA does not cause mental impairment. Children with SMA are often considered to have an above-average intelligence.

What can you expect?

Here are four types of SMA. It is helpful to keep in mind that the borders of these types are often fuzzy. There is no set description for any individual with SMA, and each case should be assessed according to the specific person. Speed of progression, needs, and what to expect are all case by case.

  • Type I - Infantile SMA (also known as Werdnig-Hoffman disease): This type of SMA is the most severe. Signs are typically evident within the first six months of life. Some early signs of SMA Type I can be muscle weakness that causes an inability to roll or sit, and eventually difficulty with eating and breathing. Infants with Type I SMA typically do not live into childhood, though there have been instances of life well into adolesence and even adulthood. Every case should be assessed according to the specific child.

    • What to expect: Infants with Type 1 SMA generally do not acquire the strength to control their heads, sit, crawl, or walk independently. Infants with Type I SMA can also have significant difficulties with swallowing and breathing, which could lead to respiratory complications and infections. Weakness in the lips, tongue, and throat, results in a difficulty to clear food or drink and therefore special care must be taken during feedings. It is also important to clear saliva and nose secretions to prevent further difficulties with breathing.

  • Type II - Intermediate SMA: Signs of this type of SMA are typically evident within the first 6-12 months of life. Type II SMA causes weakness of leg and trunk muscles which can prevent a child from crawling or walking unassisted. It is also possible for the child to have some difficulty breathing, and have a harder time holding themselves up. Children with Type II SMA typically live well into adulthood.

    • What to expect: Children with Type II SMA may be able to sit independently, but generally do not crawl or walk without assistance. The muscles in the trunk and legs are typically the most affected, making it harder for the child to hold themselves up. Some children have difficulty with breathing or eating, but some do not until later in life. Respiratory infections are a concern as producing a strong cough is generally more difficult, and the possibility of pneumonia is a concern. Children with Type II SMA are capable of going to school and participating in activites like any other child, with physical assistance when needed. People with SMA II can often attend college, maintain jobs, and even have families of their own.

  • Type III - Juvenile SMA: Signs of this type are typically evident after 2 years of age. Type III SMA is considerably milder than the infantile or intermediate forms. Children are typically able to stand alone and can walk, with some difficulty.

    • What to expect: Depending on the child, there may or may not be symptoms of weakness and decreased endurance before age 3. Evidence suggests that the later symptoms arise, the more likely it is that the progression and severity will be minimal. People with Type III SMA are expected to live normal lives and recieve physical assistance when needed. People with SMA III should work with their physicians to ensure symptomatic treatment is provided to maintain health.

  • Type IV - Adult Onset: Generally evident after age 35, adult SMA generally progresses slowly and causes generalized weakness and muscle wasting. Swallowing and respiratory function are rarely affected in Type IV. It is very rare for Spinal Muscular Atrophy to begin between the ages of 18 and 30.

What are the Causes?

  • SMA is a Recessive genetic disease. Both parents must carry a copy of the recessive SMA gene in order for the child to be affected.
  • Spinal Muscular Atrophy is caused by a mutation in the survival motor neuron gene. This gene is normally inactive during the fetal period and allows normal apoptosis in the developing fetus. This gene becomes active in the healthy mature fetus to stabilize the neuronal population. In its absence, programmed cell death persists. The mechanism and timing of abnormal motor neuron death remain unknown.

Statistics

  • It is estimated that Spinal Muscular Atrophy occurs in about 1 case in 15,000-20,000 (5-7 per 100,000) live births.
  • Between one-in-40 and one-in-80 “normal” men and women carry the gene for spinal muscular atrophy. If both a man and woman carry the gene, the chances are 25% that any of their children will manifest SMA.
  • It is one of the most common genetic causes of death in children.
  • Males are more commonly affected with SMA than females. The male-to-female ratio is 2:1
  • SMA is the most common diagnosis in girls with progressive weakness.


Awareness

  • Become aware of the affect on daily activities.

  • Spinal Muscular Atrophy symptoms vary widely between people and there are many hidden symptoms such as fatigue, cognitive dysfunction and visual problems.

  • People First Language from disabilityisnatural.com by Kathie Snow offers insight into society's use of language when using the term disability. The term disability is a societal construct to identify characteristics related to a medical condition that may entitle an individual for services or legal protections. The use of this language encourages freedom, respect and inclusion for all, and recognizes forms of language that can isolate, create negative stereotypes and place attitudinal barriers for individuals. "Using People First Language, putting the person before the disability—and eliminating old, prejudicial, and hurtful descriptors, can move us in a new direction. People First Language is not political correctness; instead, it demonstrates good manners, respect, the Golden Rule, and more—it can change the way we see a person, and it can change the way a person sees themself!" For more articles by Kathie Snow to "help us begin to use more respectful and accurate language and create positive change," visit People First Language and More

Viewpoint

  • Each person's journey with Spinal Muscular Atrophy is unique; symptoms should not be generalized or predicted.

Treatment Options to Consider

    Treatment of all forms of SMA is symptomatic and can include the treatment of pneumonia and/or respiratory infections if present and the correction of curvature of the spine. Every case is different and should be assessed according to the individual.

  • Early Intervention
      Early intervention is an integrated developmental service available to the families of children, between birth and three years of age, for whom there are developmental concerns due to identified disabilities, or whose typical development is at risk due to certain birth or environmental circumstances. Visit also our topic Lifeplanning: Birth to Three
  • Physical Therapy
      Most individuals with SMA will need Physical Therapy and find benefits such as maintaining strength and preventing contractures in muscles. Swimming is a great form of physical therapy especially for kids to have fun while doing their therapy. Your physical therapist should be able to suggest simple exercises you can do at home as well.
  • Occupational Therapy
      This form of therapy is sometimes used to maintain hand strength and dexterity.
  • Orthotic Supports
      Some individuals with SMA find supports such as ankle braces helpful in preventing contractures in muscles and treating muscle tightness. Your Orthopedic doctor should help assess if this is necessary.
  • Breathing Medicines and Assistive Equipment
      With respiratory infections being a concern for individuals with SMA, inhalers and nebulizer inhalents are often helpful in maintaining pulmonary health. Some find machines such as the "Cough Assist", which helps to produce a stronger cough, to be essential in preventing and treating respiratory infections. Your Pulmonologist should help assess necessary treatment and provide more information.
  • Feeding tube
      In some cases, nutrition concerns become severe and a feeding tube can be placed. Depending on the individual, this might never become necessary, or the tube may be removed once nutrition is under control. Each case should be seriously assessed by your doctor.
  • Spinal Fusion
      Often times, individuals with SMA will have problems with curvature of the spine (scoliosis) at some point in their lifetime. A spinial fusion is often helpful as curving of the spine, if severe, can cause problems with the lungs and heart. Your Orthopedic doctor should assess when and if this is necessary.

       

On-Line Discussion

    Visit our NHU Community Forum on Spinal Muscular Atrophy for more insight, awareness, viewpoints, experiences, needs and solutions.

Learn More about Spinal Muscular Atrophy

Organizations and websites that provide information about Spinal Muscular Atrophy:

  • KidsHealth is a great webpage with medically reviewed information about SMA "without the doctor speak."
  • Learn About SMA is a resource including stories of living with SMA and recent advances in the understanding and potential treatment of SMA. Their site is divided into five sections that can be browsed in a non-linear fashion, with video interviews, animations, and narrative. This website has a great Learn About SMA Glossary of terms in regard to understanding the genetics of SMA.


References

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