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Table 3 Signs and Symptoms of GM2a

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

Conceptn (%)b
Muscle weakness19 (95%)
Spontaneous: 9 (45%)
Probed: 10 (50%)
Impact on driving1 (5%)
Impact on getting dressed1 (5%)
Impact on exercise1 (5%)
Impact on recovery time1 (5%)
Impact on needing assistance2 (10%)
Worsened by fatigue3 (15%)
Worsened by exercise1 (5%)
Worsened by movement1 (5%)
“Clumsy” gait12 (60%)
Spontaneous: 4 (20%)
Probed: 8 (40%)
Fatigue10 (50%)
Spontaneous: 8 (40%)
Probed: 2 (10%)
Worsened by walking4 (20%)
Slurred speech9 (45%)
Spontaneous: 5 (25%)
Probed: 4 (20%)
Worsened by conversation2 (10%)
Worsened by dry mouth1 (5%)
Worsened by stress1 (5%)
Worsened by tiredness1 (5%)
Talking quickly9 (45%)
Spontaneous: 6 (30%)
Probed 3 (15%)
Worsened by stress3 (15%)
Worsened by conversation2 (10%)
Worsened by dry mouth1 (5%)
Worsened by tiredness1 (5%)
Muscle tremors6 (30%)
Worsened by feeling nervous2 (10%)
Choking5 (25%)
Spontaneous: 4 (20%)
Probed: 1 (5%)
Coughing5 (25%)
  1. aSigns and symptoms reported by less than 25% of patients included swallowing, gastrointestinal issues, cramps (n = 4, 20% each), dry mouth, memory loss (n = 3, 15% each), aphasia, urine retention, numbness (n = 2, 10% each), hearing loss, incontinence, intellectual disability, itchiness, muscle tightness, supination of the feet, swelling, and tingling (n = 1, 5% each)
  2. bNumber of patients who reported the concept out of a total of 20 interviews: 17 patient interviews, 2 patient focus group interviews, and 1 caregiver focus group interview. Concepts captured from focus group interviews were treated as a single interview during analysis as individual participants could not be differentiated in the focus group transcripts