Table 2.
Top unmet health care needs as elicited from DM1 and MM patients and caregivers
| Code | C [N(P)] | MB | Symptom examples | Impact on: (n) | ADL examples | ||
|---|---|---|---|---|---|---|---|
| Work | Social and leisure | ADL | |||||
| Muscle strength | 69 [n = 34, n = 29 (20P) DM1; and n = 5 (3P) MM] | 12 |
“The weakness in my hands” “I have … foot drop?” “And his strength on his hands …” |
6 | 19 | 52 |
“Like peeling potatoes … I would said. I don't cut stuff like that cause I got no pressure (on hands) …” “I fell over, cause [uhm] I couldn’t lift my feet” |
| Energy, endurance and daytime sleepiness | 56 [n = 21, n = 16 (13P) DM1; and n = 5 (3P) MM] | 4 |
“I am sleepy all the time” “He falls asleep just like that” |
5 | 9 | 43 |
“When I am sleepy it affects my physical abilities” “He could sleep forever … I would struggle to wake him up” |
| Cognition and learning difficulties | 23 [n = 16, n = 12 (5P) DM1; and n = 4 (3P) MM] | 4 |
“I can’t think quickly” “I mean his memory …” “Concentration is not there” |
11 | 11 | 18 | “I could be sitting in the meeting and suddenly clicks in and that's it[!] and everybody could be talking Chinese for all I know” |
| Balance and coordination | 21 [n = 15, n = 11 (10P) DM1; and n = 4 (3P) MM] | 1 |
“I am in average falling every ten days” “The difficulties in balance” |
5 | 15 | 18 |
“He can't play golf … he can't stand and hit a ball” “He was a builder and he fell 3 stories” |
| Cardiovascular fitness | 21 [n = 13, n = 11 (8P) DM; and 2 (1P) MM] | 0 |
“I am obviously concerned about my heart” “I have a pacemaker” |
0 | 3 | 4 | “His blood pressure changes with heights quite drastically like in altitudes when going skiing” |
| Speech | 18 [n = 15, n = 11 (4P) DM1; and n = 4 (1P) MM] | 3 |
“Speech as well … it tends to get slurred” “Suffers with dysarthria” |
0 | 17 | 18 | “His speech is indistinct and when he gets excited you ... you can't follow” |
| Gut | 18 (n = 15, n = 13 (9P) DM1; and n = 2 (1P) MM] | 3 |
“Toilet problems” “What affects me the most is my stomach issues” |
0 | 3 | 13 |
“I got diarrhea and constipation from 1 day to the other” “Well … he still uses nappies …” |
| Mood and motivationa | 15 [n = 9, (2P) DM] | 3 |
“I have apathy” “Depression” “It was the lack of motivation” |
0 | 1 | 8 | “I cannot get motivated to do anything” |
| Swallowing | 14 [n = 9, n = 8 (4P) DM1; and n = 1 MM] | 1 |
“Gagging when eating” “Had to stop to swallow saliva” “He is PEG fed” |
0 | 4 | 8 | “My husband ... stops in his conversation and consciously swallow cause its ... his saliva builds up” |
| Myotoniaa | 14 [n = 10 (8P) DM] | 0 |
“A tightness in my muscles” “It is difficult to let the hand go” |
0 | 3 | 11 | “To have to ask a stranger on the tube, to open a bottle of water for me” |
| Respiratory system | 12 [n = 7, n = 5 (2P) DM1; and n = 2 MM] | 0 | “Respiratory failure” | 0 | 1 | 5 | “He is on BiPap overnight” |
C number of times the code was mentioned, N number of participants mentioning each code, P number of those participants who were patients, MB number of times the code was highlighted as the sign or symptom that was most bothersome to the patient, DM1 myotonic dystrophy type 1, MM mitochondrial myopathies, ADL activities of daily living, PEG percutaneous endoscopic gastrostomy
a Codes exclusively identified in the DM group