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Spinal muscular atrophy


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Superficial anterior muscles
Superficial anterior muscles
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Spinal muscular atrophy

Alternative Names:

Werdnig-Hoffmann disease
Symptoms:

In an infant:

  • Floppy infant
  • Very weak infant
  • Little spontaneous movement
  • Lack of head control
  • Feeding difficulty
  • Breathing difficulty
  • Progressive weakness (older infant to toddler)

In a child:

  • Nasal speech
  • Worsening posture
  • Frequent, increasingly severe respiratory infections

Signs and tests:
  • A family history of neuromuscular disease
  • Absent deep tendon reflexes
  • Flaccid muscles
  • Muscle fasciculation
  • Fasciculation of tongue muscle
  • Elevated CPK levels
Tests:


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