Spinal muscular atrophy
Alternative names:
Werdnig-Hoffmann disease
Symptoms:
- family history of spinal muscular atrophy
- floppy infant
- very weak infant
- little spontaneous movement (infant)
- lack of head control (infant)
- feeding difficulty (infant)
- breathing difficulty (infant)
- progressive weakness (older infant to toddler)
- nasal speech (child)
- worsening posture (child)
- 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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