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All about spinal muscular atrophy (SMA) causes of spinal muscular atrophy symptoms of spinal muscular atrophy diagnosis of spinal muscular atrophy treatment for spinal muscular atrophy

How is spinal muscular atrophy diagnosed?

The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. During the physical examination, your child's physician will obtain a complete medical history of your child, and he/she may also ask if there is a family history of any medical problems.

Diagnostic tests that may be performed to confirm the diagnosis of spinal muscular atrophy include the following:

  • Blood tests
  • Muscle biopsy - a small sample of the muscle is removed and examined to determine and confirm a diagnosis or condition.
  • Genetic tests - diagnostic tests that evaluate for conditions that have a tendency to run in families.
  • Electromyogram (EMG) - a test that measures the electrical activity of a muscle or a group of muscles. An EMG can detect abnormal electrical muscle activity due to diseases and neuromuscular conditions.

  • More information on spinal muscular atrophy (SMA)

    What's spinal muscular atrophy (SMA)? - Spinal muscular atrophy is a degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness.
    What causes spinal muscular atrophy? - Spinal muscular atrophy (SMA) that is caused by a deletion of the SMN gene on chromosome 5 is an inherited progressive neuromuscular disorder.
    What are the symptoms of spinal muscular atrophy? - Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems.
    How is spinal muscular atrophy diagnosed? - The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing.
    What's the treatment for spinal muscular atrophy? - The goal of treatment of spinal muscular atrophy is to prevent respiratory problems and provide adequate nutritional care to the child.
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