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Table 4 Summary of symptom and proximal impact concepts reported by ≥5 GBA-PDa participants

From: Patients’ experiences of Parkinson’s disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson’s disease

Concept (number of GBA-PDa patients who reported concept; N = 15) Quote
Symptoms
Motor symptoms
  Tremor (n = 13/15) “So when I get really scared, I really shake. And it’s embarrassing. So, so I might say [the most bothersome symptom is] an embarrassing tremor.” (GBA-PD patient, H&Y stage 1)
  Walking limitations (n = 12/15) “…mobility is more difficult with GBA, which is certainly what I'm finding.” (GBA-PD patient, H&Y stage 2)
  Bradykinesia/ slowness (n = 12/15) “I just do everything much slower than I used to” (GBA-PD patient, H&Y stage 2)
  Balance/ postural instability (n = 12/15) “I’ve had problems with balancing. I’ve worked on it a lot. Uh, I take a boxing class. It helps a lot on that.” (GBA-PD patient, H&Y stage 2)
  Rigidity/ stiffness (n = 11/15) “Well the stiffness—you’re not mobile because you’re still. So it’s just stiffness. That’s my main, my main concern, my main problem.” (GBA-PD patient, H&Y stage 2)
  Limb weakness (n = 11/15) “I would describe that as weakness, when it’s acting up, yes … it’s like you’ve overworked it for a long period of time and it’s, uh, it’s not sore but it’s just kind of irritated.” (GBA-PD patient, H&Y stage 2)
  Speech problems (n = 11/15) “I feel it takes a little bit more effort for me to talk so that people can hear me and understand me clearly.” (GBA-PD patient, H&Y stage 2)
Cognitive/psychiatric symptoms
  Memory loss (n = 13/15) … when I talk it’s hard to talk in paragraphs. I have these long gaps in my speech. Um, there’s one now.” (GBA-PD patient, H&Y stage 1)
  Attentional impairments (n = 10/15) “I’m having problems concentrating, even on the local newspaper, which aren’t complicated articles at all, I have trouble getting to the end of it.” (GBA-PD patient, H&Y stage 2)
  REMb sleep disorder (n = 7/15) “I act out my dreams. Usually my wife tells me they’re sports dreams. She occasionally gets whacked.” (GBA-PD patient, H&Y stage 1)
  Apathy (n = 6/15) “It’s almost like I lose my ambition to get something done … The sense of accomplishment is just like, I don’t care.” (GBA patient, H&Y stage 3)
Non-motor symptoms
  Fatigue/ tiredness (n = 14/15) “I have unexplained tiredness, uh, about 1:00 in the afternoon, something like that. And that can come on quite suddenly.” (GBA-PD patient, H&Y stage 2)
  Pain (n = 12/15) “Like a stiffness pain. You know, that was sort of going on with the stiffness. Like my hand was stiff and almost like a—maybe like a tendonitis pain like just pulling.” (GBA-PD patient, H&Y stage 1)
  Urinary problems (n = 12/15) “I’m constantly—in fact, that’s why I had to run to the bathroom when I got here. I have urges of frequency.” (GBA-PD patient, H&Y stage 3)
  Orthostatic hypotension (n = 11/15) “I feel dizzy when I stand up, especially like if I’m gardening. So if I’m going to go, you know, like squatting, leaning, digging and I stand up I feel dizzy like maybe like I’m going to faint.” (GBA-PD patient, H&Y stage 1)
  Cramps (n = 10/15) “Your muscle is tightening up and it hurts like hell and it does happen every once in a while.” (GBA-PD patient, H&Y stage 2)
  Constipation (n = 9/15) “It’s getting the movement started [that is difficult] and that’s my sphincter muscle again being stiff.” (GBA-PD patient, H&Y stage 2)
  Tingling numbness (n = 9/15) “Sometimes I’m getting some tingling, numbness, like in my back.” (GBA-PD patient, H&Y stage 2)
  Sweating/ oily skin (n = 6/15) “I’ll get white and sweaty and then I’m like, okay it’s time for either a dose or for me to sit down.” (GBA-PD patient, H&Y stage 3)
Proximal motor impacts
  Physical movement difficulties (n = 13/15) … it’s a normal car. Just turning in that position and balancing myself to get out on my feet, that’s challenging.” (GBA-PD patient, H&Y stage 2)
  Handwriting (n = 13/15) “It was difficult to read my own handwriting and it was small. And, uh, the characters were small and not as clean and smooth as I normally would have written.” (GBA-PD patient, H&Y stage 3)
  Decline in physical activities (n = 11/15) “When I first came down here, I could barely, uh, stand up in a boat to go fishing …” (GBA-PD patient, H&Y stage 2)
  Dressing (n = 10/15) “I couldn’t do the buttons on my shirt. I just couldn’t do it, so my husband would do it for me.” (GBA-PD patient, H&Y stage 2)
  Dyskinesia (n = 10/15) “I felt that sick from the dyskinesia … Your body … is pulling and moving and hurting. So yeah, it could be painful.” (GBA-PD patient, H&Y stage 2)
  Eating and drinking (n = 9/15) … because of the loss of smell, food doesn’t taste as good, even water, and it’s gotten worse. As time goes on, it’s harder and harder for me to find something that I like … So I’ve lost, I’ve lost weight.” (GBA-PD patient, H&Y stage 3)
  Household activities and chores (n = 9/15) “I used to be a very self-sufficient person. I am no longer self-sufficient. I don’t cook. I don’t do dishes. I don’t clean up. I really just can’t. I would put myself in jeopardy of falling. And I don’t want to do that.” (GBA-PD patient, H&Y stage 3)
  Non-physical hobbies (n = 9/15) “I mean sometimes I can’t read a book because I can’t hold it. That’s how stiff I am and painful.” (GBA-PD patient, H&Y stage 2)
  Hygiene and grooming tasks (n = 8/15) “Before I had Parkinson’s, I would take a shower every day. Now, um, I’m getting that I take a shower every other day, but I only do my hair once a week.” (GBA-PD patient, H&Y stage 3)
  Limb agility (n = 7/15) “I’m trying to tap my leg. I’m fighting through something … when I went to the first neurologist and he asked me to do that I was like I, I’m surprised that I can’t do it.” (GBA-PD patient, H&Y stage 1)
  Decrease in activities (n = 6/15) “Planning is, is a huge part of, um, having Parkinson’s because I know my best time of the day is in the morning. So I have to accommodate trying to get everything done in that timeframe because by 2:00 … my body says you’re done.” (GBA-PD patient, H&Y stage 3)
Distal impacts
Sleep problems
  Daytime sleepiness (n = 14/15) “You go to bed tired, you wake up tired, during the day you’re tired. I’m tired now. I was tired when I got up this morning.” (GBA-PD patient, H&Y stage 2)
  Sleep disruptions (n = 13/15) “I mean I sleep very restlessly. Of course I have dreams [REM sleep disorder] all night long, which is part of Parkinson’s. And so I’m restless in my sleep.” (GBA-PD patient, H&Y stage 2)
Role functioning limitations
  Work (n = 11/15) “I find myself getting tired more easily ‘til I realized I was unable to practice.” (GBA-PD patient, H&Y stage 3)
  Outings (n = 8/15) “It eats up time if I go grocery shopping … I don’t want to feel like I’m, I’m weird or handicapped or anything, so I do it … The bad news is, it takes time to do it.” (GBA-PD patient, H&Y stage 2)
Social functioning limitations
  Social isolation (n = 12/15) “I’ve cut down a lot. I’m talking like 90%. I used to be out all the time with friends … Now I just don’t, I don’t want to do it.” (GBA-PD patient, H&Y stage 2)
  Family interactions (n = 8/15) “Um, taking family trips, I can’t do that. Um, being dependable to show up for an event, maybe yes, maybe no, depends on how I feel rather than yeah, I’ll be there.” (GBA-PD patient, H&Y stage 2)
Emotional functioning limitations
  Feeling fearful (n = 12/15) “I have more recently felt some feelings of panic, um, because I maybe couldn’t do—function with something or I couldn’t remember it or …” (GBA-PD patient, H&Y stage 2)
  Depressed mood (n = 9/15) “Depression: I mean, you know, it’s just feeling down and … you know, why do I have Parkinson’s or why am I so tired …” (GBA-PD patient, H&Y stage 2)
  Anxious mood (n = 9/15) … anxiety is really every day, every morning for four or five hours. And just, it’s a fairly crummy four or five hours.” (GBA-PD patient, H&Y stage 2)
  Fear of falling (n = 8/15) “I don’t cook. I don’t do dishes. I don’t clean up. I really just can’t. I would put myself in jeopardy of falling.” (GBA-PD patient, H&Y stage 3)
  Feeling upset (n = 8/15) … first it’s first finding about it [the diagnosis], which is very devastating.” (GBA-PD patient, H&Y stage 2)
  Embarrassment (n = 6/15) “The worst thing, um, if it’s a bad day and you’re moving around a lot, it’s embarrassing.” (GBA-PD patient, H&Y stage 2)
  Stress (n = 6/15) “I mean I do get a little tense if I’m with a group of people on a given day. If I’m by myself I’m okay.” (GBA-PD patient, H&Y stage 2)
Medical interventions
  Treatment impacts (excluding dyskinesia; n = 10/15) “All day long, I’m either dosing or thinking about dosing … constantly worrying about where I’m going to be when I have to take my next dose, make sure I have water with me. You know, it’s just, it’s all consuming.” (GBA-PD patient, H&Y stage 2)
  1. aGBA-PD Glucocerebrosidase-Parkinson’s Disease, bREM Rapid Eye Movement