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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

Domain

Concept

n (%)b

Physical: 20 (100%)a

Gross Motor Function: 19 (95%)

Walking

19 (95%)

Spontaneous: 8 (40%)

Probed: 11 (55%)

Impact on activities

5 (25%)

Impact on travel

4 (20%)

Worsened by uneven surfaces

4 (20%)

Worsened by hot/cold temperatures

2 (10%)

Worsened by distance

2 (10%)

Worsened by feeling nervous

1 (5%)

Worsened by muscle weakness

1 (5%)

Worsened by pain

1 (5%)

Worsened by tremors

1 (5%)

Climbing stairs

16 (80%)

Spontaneous: 8 (40%)

Probed: 8 (40%)

Impact on leisure activities

3 (15%)

Impact on vacation

1 (5%)

Worsened by muscle weakness

2 (10%)

Getting up

16 (80%)

Spontaneous: 11 (55%)

Probed: 5 (25%)

Impact on driving

1 (5%)

Needs assistance

4 (20%)

Gait

11 (55%)

Spontaneous: 7 (35%)

Probed: 4 (20%)

Worsened by speed

1 (5%)

Worsened by uneven ground

1 (5%)

Lifting

7 (35%)

Spontaneous: 5 (25%)

Probed: 2 (10%)

Knees buckling

6 (30%)

Fine Motor Function: 15 (75%)

Dropping items

7 (35%)

Spontaneous: 6 (30%)

Probed: 1 (5%)

Grip

6 (30%)

Impact on driving

1 (5%)

Worsened by muscle weakness

1 (5%)

Balance: 19 (95%)

Falling

17 (85%)

Spontaneous: 12 (60%)

Probed: 5 (25%)

Impact on activities

4 (20%)

Impact on getting dressed

1 (5%)

Impact on showering

1 (5%)

Worsened by tiredness

3 (15%)

Worsened by speed

2 (10%)

Worsened by not concentrating

2 (10%)

Worsened by exertion

1 (5%)

Worsened by illness

1 (5%)

Worsened by walker

1 (5%)

Broken bones

12 (60%)

Spontaneous: 9 (45%)

Probed: 3 (15%)

Resulting in surgery

5 (25%)

Impact on sleep

1 (5%)

Worsened by falling

3 (15%)

Standing

5 (25%)

Spontaneous: 4 (20%)

Probed: 1 (5%)

Speech: 5 (25%)

Speech

5 (25%)

Spontaneous: 3 (15%)

Probed: 2 (10%)

Worsened by tiredness

2 (10%)

Worsened by stress

2 (10%)

Worsened by cold

1 (5%)

Emotional: 18 (90%)b

Fear of falling

10 (50%)

Spontaneous: 6 (30%)

Probed: 4 (20%)

Frustrated

9 (45%)

Spontaneous: 8 (40%)

Probed: 1 (5%)

Embarrassed

6 (30%)

Impact on social activities

1 (5%)

Scared/worried

6 (30%)

Impact on daily activities

3 (15%)

Self-esteem

5 (25%)

Spontaneous: 4 (20%)

Probed: 1 (5%)

Cautious

5 (25%)

Financial: 13 (65%)c

Inability to work

7 (35%)

Spontaneous: 5 (25%)

Probed: 2 (10%)

Social: 18 (90%)d

Difficulty communicating

11 (55%)

Spontaneous: 8 (40%)

Probed: 3 (15%)

Impact on ordering at restaurants

1 (5%)

Worsened by talking quickly

1 (5%)

Social activities

8 (40%)

Negative impact on relationships

7 (35%)

Impact on relationship with friends

4 (20%)

Impact on relationship with children

2 (10%)

Impact on relationship with partner

2 (10%)

Impact on relationship with family

1 (5%)

Worsened by speech

1 (5%)

Work: 18 (90%)e

On disability insurance

10 (50%)

Productivity

6 (30%)

Spontaneous: 5 (25%)

Probed: 1 (5%)

Reduced work hours

5 (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%)
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172