Spinal muscular atrophy
Alternative Names
Werdnig-Hoffmann diseaseSymptoms
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
Exams and Tests
- 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
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