Skip to main content

Table 4 Impacts of Late-onset GM2 gangliosidosis

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

DomainConceptn (%)b
Physical: 20 (100%)aGross Motor Function: 19 (95%)
Walking19 (95%)
Spontaneous: 8 (40%)
Probed: 11 (55%)
Impact on activities5 (25%)
Impact on travel4 (20%)
Worsened by uneven surfaces4 (20%)
Worsened by hot/cold temperatures2 (10%)
Worsened by distance2 (10%)
Worsened by feeling nervous1 (5%)
Worsened by muscle weakness1 (5%)
Worsened by pain1 (5%)
Worsened by tremors1 (5%)
Climbing stairs16 (80%)
Spontaneous: 8 (40%)
Probed: 8 (40%)
Impact on leisure activities3 (15%)
Impact on vacation1 (5%)
Worsened by muscle weakness2 (10%)
Getting up16 (80%)
Spontaneous: 11 (55%)
Probed: 5 (25%)
Impact on driving1 (5%)
Needs assistance4 (20%)
Gait11 (55%)
Spontaneous: 7 (35%)
Probed: 4 (20%)
Worsened by speed1 (5%)
Worsened by uneven ground1 (5%)
Lifting7 (35%)
Spontaneous: 5 (25%)
Probed: 2 (10%)
Knees buckling6 (30%)
Fine Motor Function: 15 (75%)
Dropping items7 (35%)
Spontaneous: 6 (30%)
Probed: 1 (5%)
Grip6 (30%)
Impact on driving1 (5%)
Worsened by muscle weakness1 (5%)
Balance: 19 (95%)
Falling17 (85%)
Spontaneous: 12 (60%)
Probed: 5 (25%)
Impact on activities4 (20%)
Impact on getting dressed1 (5%)
Impact on showering1 (5%)
Worsened by tiredness3 (15%)
Worsened by speed2 (10%)
Worsened by not concentrating2 (10%)
Worsened by exertion1 (5%)
Worsened by illness1 (5%)
Worsened by walker1 (5%)
Broken bones12 (60%)
Spontaneous: 9 (45%)
Probed: 3 (15%)
Resulting in surgery5 (25%)
Impact on sleep1 (5%)
Worsened by falling3 (15%)
Standing5 (25%)
Spontaneous: 4 (20%)
Probed: 1 (5%)
Speech: 5 (25%)
Speech5 (25%)
Spontaneous: 3 (15%)
Probed: 2 (10%)
Worsened by tiredness2 (10%)
Worsened by stress2 (10%)
Worsened by cold1 (5%)
Emotional: 18 (90%)bFear of falling10 (50%)
Spontaneous: 6 (30%)
Probed: 4 (20%)
Frustrated9 (45%)
Spontaneous: 8 (40%)
Probed: 1 (5%)
Embarrassed6 (30%)
Impact on social activities1 (5%)
Scared/worried6 (30%)
Impact on daily activities3 (15%)
Self-esteem5 (25%)
Spontaneous: 4 (20%)
Probed: 1 (5%)
Cautious5 (25%)
Financial: 13 (65%)cInability to work7 (35%)
Spontaneous: 5 (25%)
Probed: 2 (10%)
Social: 18 (90%)dDifficulty communicating11 (55%)
Spontaneous: 8 (40%)
Probed: 3 (15%)
Impact on ordering at restaurants1 (5%)
Worsened by talking quickly1 (5%)
Social activities8 (40%)
Negative impact on relationships7 (35%)
Impact on relationship with friends4 (20%)
Impact on relationship with children2 (10%)
Impact on relationship with partner2 (10%)
Impact on relationship with family1 (5%)
Worsened by speech1 (5%)
Work: 18 (90%)eOn disability insurance10 (50%)
Productivity6 (30%)
Spontaneous: 5 (25%)
Probed: 1 (5%)
Reduced work hours5 (25%)
  1. aPhysical impacts reported by less than 25% of patients included sprain, pain, sports/exercise (n = 4, 20%), bruising, carrying items, picking up items, sleeping (n = 3, 15%), typing, writing, slow reaction time, stutter (n = 2, 10%), jumping, sitting, throwing, chewing, abscesses, eyesight, internal body temperature, longer time to heal, judging distance, soreness, stiffening (n = 1, 5% each),
  2. bEmotional impacts reported by less than 25% of patients included sad/depressed (n = 4, 20%), anxiety (n = 3, 15%), anger (n = 2, 10%), feeling drained, short tempered, and stress (n = 1, 5% each)
  3. cFinancial impacts reported by less than 25% of patients included medical bills (n = 4, 20%), purchasing specialty items, job limitations (n = 3, 15% each), moving to more accommodating residence, dependent on others (n = 2, 10% each), medical complications, specialty adaptation to home, and travel (n = 1, 5% each)
  4. dSocial impacts reported by less than 25% of patients included social withdrawal, dependent on someone (n = 4, 20% each), difficulty with romantic relationships (n = 3, 15%), difficulty making friends, treated differently, and talking less (n = 2, 10% each)
  5. eWork impacts reported by less than 25% of patients included changed jobs (n = 4, 20%), limited job opportunities, unemployed, retired, fired (n = 3, 15%), difficulty finding job (n = 2, 10%), lack of progression, and quit (n = 1, 5%)