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What is SMA?
01-17-2011, 12:39 PM
Post: #1
What is SMA?
SMA stands for Spinal Muscular Atrophy

SMA is a devastating, genetic disease. It is a leading genetic killer of infants and toddlers, with 50% of the most severely diagnosed cases resulting in death by the age of two. Children with a less severe form of SMA face the prospect of progressive muscle wasting, loss of mobility and motor function. But their minds are unaffected resulting in bright, intelligent children with varying degrees of physical impairment.

* SMA is currently incurable and often fatal
* 1 in every 6,000 births is affected by SMA
* 1 in every 40 people is a carrier of the defective gene that causes SMA
* the child of two carriers has a one in four chance of developing SMA
* SMA affects motor neurons in the spinal cord. This results in muscular weakness, leading to severe disability and the possibility of premature death

SMA is currently incurable

There are three types of SMA that affect children:
  • Type I is the most common form and is the severest type. Onset typically occurs before 6 months of age. Weakness is severe and manifests in difficulties moving, eating, swallowing and breathing. The proximal muscles, or muscles closed to the trunk such as the neck, shoulder and pelvic girdle muscles, are most significantly involved. SMA Type I babies have floppy limbs and tongue fasiculations (flickering).
  • Type II is less severe. Onset typically occurs between 6 and 18 months of age. These children are able to sit at some point in their lives but never achieve the ability to walk. The most significant weaknesses are manifest in their proximal muscles. Physical therapy and orthopaedic evaluations can monitor the progression of joint limb contractures and scoliosis (a curved or rotated spine) development. Providing appropriate exercises and bracing may slow progression. Self-initiated mobility is often attained with electronic wheelchairs. Respiratory health is a concern and should be monitored to avoid dangerous respiratory failure and chest infections.
  • Type III is the mildest of the three types. Babies appear normal at birth, and diagnosis is generally made when they are over the age of two. Children with Type III range from those able to take a few steps to those who can ambulate throughout their home and community. As some children grow, their larger bodies and heavier weight make walking and other activities more difficult. A child may require a wheelchair to navigate their environment. Individual assessments can help create tailored stretching/exercise programs.


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08-01-2011, 09:23 AM
Post: #2
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