Description
Spinal muscular atrophy is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death.
Symptoms
Infants with SMA type I are born with very little muscle tone, weak muscles, and feeding and breathing problems. With SMA type III, symptoms may not appear until the second year of life.
Often, weakness is first noted in the shoulder muscles and proximal leg muscles. Weakness gets worse over time and will eventually become severe.
Symptoms in an infant:
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Breathing difficulty
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Feeding difficulty
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Floppy infant (poor muscle tone)
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Lack of head control
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Little spontaneous movement
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Progressive weakness (older infant to toddler)
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Very weak infant
Symptoms in a child:
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Frequent, increasingly severe respiratory infections
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Nasal speech
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Worsening posture
What you can expect from therapy
There is no treatment for the progressive weakness caused by the disease. Supportive care is important. Attention must be paid to the respiratory system because affected people have difficulty protecting themselves from choking. Breathing complications are common.
Physical therapy is important to prevent contractions of muscles and tendons and abnormal curvature of the spine (scoliosis). Bracing may be necessary.