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Table 6 Most bothersome, meaningful improvement, and important to treat concepts

From: Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Conceptna
Most Bothersome
 Muscle weakness5
 Lack of independence3
 Speech2
 Walking2
 Anxiety1
 Balance1
 Coughing1
 Difficulty communicating1
 Disease progression1
 Falling1
 Gastrointestinal issues1
 Getting up1
 Inability to climb stairs1
 Pain1
 Self esteem1
 Social life1
Meaningful Improvement
 Reduce muscle weakness4
 Improve ability to communicate2
 Improved clarity of speech2
 No wheelchair2
 Keeping pace with others1
 Reduce difficulty speaking1
 No falls1
 Ability to climb stairs1
 Walk further1
 Walk without assistance1
Most Important Change: 1st
 Walking4
 Speech3
 Getting up3
 Falling2
 Balance1
 Mobility1
Most Important Change: 2nd
 Muscle weakness2
 Speech2
 Coughing1
 Gastrointestinal issues1
 Internal body temperature1
 Walking1
Most Important Change: 3rd
 Falling1
 Controlling breathing while speaking1
 Insomnia1
Most Important to Treat
 Prevent disease progression4
 Walking4
 Getting up3
 Measurable improvement3
 Speech3
 Muscle weakness2
 50% fewer bathroom trips1
 50% less coughing1
 Balance1
 Fatigue1
 Without side effects1
  1. aNot all patients were asked or reported their most bothersome, important to treat, or meaningful improvement. Thus, only the number of patients is reported