D2I2.
genetic

Spinal muscular atrophy

Spinal muscular (SMA) is a rare disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is the progressive weakness of voluntary muscles, with the arm, leg, and muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures.

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Symptoms — what it feels like

  • ·Progressive muscle weakness

Causes — why it happens

  • · in SMN1

How it's found

  • · testing

Treatment

  • ·Supportive care, medications

Complications

  • ·Scoliosis, joint contractures,

Outlook

  • ·Varies by type
Plain-language summary adapted from Wikipedia. Not medical advice.