Spinal muscular atrophy

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Superficial anterior muscles

Werdnig-Hoffmann disease

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

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

• Muscle biopsy
• Electromyography
• MRI of the spine
• DNA testing to confirm diagnosis

Review Date: 09/10/2006
Reviewed By: Daniel Kantor, M.D., Director of the Comprehensive MS Center, Neuroscience Institute, University of Florida Health Science Center, Jacksonville, FL. Review provided by VeriMed Healthcare Network.