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

Table 3 Signs and Symptoms of GM2^a

Concept	n (%)^b
Muscle weakness	19 (95%) Spontaneous: 9 (45%) Probed: 10 (50%)
Impact on driving	1 (5%)
Impact on getting dressed	1 (5%)
Impact on exercise	1 (5%)
Impact on recovery time	1 (5%)
Impact on needing assistance	2 (10%)
Worsened by fatigue	3 (15%)
Worsened by exercise	1 (5%)
Worsened by movement	1 (5%)
“Clumsy” gait	12 (60%) Spontaneous: 4 (20%) Probed: 8 (40%)
Fatigue	10 (50%) Spontaneous: 8 (40%) Probed: 2 (10%)
Worsened by walking	4 (20%)
Slurred speech	9 (45%) Spontaneous: 5 (25%) Probed: 4 (20%)
Worsened by conversation	2 (10%)
Worsened by dry mouth	1 (5%)
Worsened by stress	1 (5%)
Worsened by tiredness	1 (5%)
Talking quickly	9 (45%) Spontaneous: 6 (30%) Probed 3 (15%)
Worsened by stress	3 (15%)
Worsened by conversation	2 (10%)
Worsened by dry mouth	1 (5%)
Worsened by tiredness	1 (5%)
Muscle tremors	6 (30%)
Worsened by feeling nervous	2 (10%)
Choking	5 (25%) Spontaneous: 4 (20%) Probed: 1 (5%)
Coughing	5 (25%)

^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)
^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

ISSN: 1750-1172