Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study

Figures & data

Table 1. Participant characteristics, in order of inclusion sequence.

Participant number	Gender, age	FSHD score [12] (facial weakness)	Facial functional disability	Social status	Work status	Wheelchair	Researcher-evaluation-scores
1	F, 24	9 (2)	Articulation problems No nuts, meal >30 min, cramp in muscles	Living alone	Working part-time	Yes, age: 18, not using at home	+++
2	M, 26	15 (2)	Speaking for a long time and to strangers Cuts food into little pieces	Living alone	Working part-time	Yes: age 17	+
3	F, 29	10 (2)	Raising voice	Living alone	Working part-time	Yes, only for long distances	+++
4	F, 29	15 (2)	Mild difficulties with strangers Meal >30 min, cuts food in little pieces, difficulty swallowing food	Living alone	Student	Yes, age: 18	+++
5	M, 38	15 (2)	Speaking for a long time and to strangers	Living alone	No job	Yes, age: 19	−/+
6	M, 38	4 (1)	None	Living together	Working full-time	No	−
7	M, 39	3 (1)	Mild articulation problems	Living together	Working full-time	No	+
8	M, 45	11 (2)	Raising voice, speaking for a long time No chewy meat, cuts food in little pieces, cramp in muscles	Living together	Early retirement	Yes, only for long distances	−/+
9	F, 46	14 (2)	Raising voice, speaking for a long time No chewy meat, aware of choke risk	Living together	Working part-time	Yes, age: 26	+++
10	F, 47	11 (2)	No chewy meat, cuts food in little pieces, cramp in muscles, mild difficulty swallowing food	Living alone	Early retirement	Yes, only for long distances	++
11	F, 49	5 (1)	None	Living together	Working part-time	No	−/+
12	M, 54	12 (1)	Mild difficulties with strangers, raising voice	Living alone	Working part-time	Yes: 51	−/+
13	F, 57	15 (2)	Raising voice, articulation problems Only soft/mashed food	Living alone	Single, early retirement	Yes, age: 27	–
14	F, 72	9 (1)	Raising voice, articulation problems, no intonation when speaking fast	Living alone	Retired	No	−/+
15	F, 75	12 (1)	None	Living together	Retired	Yes, age: 57	−/+
16	M, 77	13 (1)	None	Living alone	Retired	Yes, age: 70	–

The FSHD Evaluation Scale ranges from 0 to 15, and higher scores indicate more severe disease. The facial weakness score is a part of the FSHD Evaluation Scale, ranging from 0 to 2 (0 = none; 1 = moderate; 2 = severe). Researcher-evaluation-scores regarding the experienced psychosocial consequences of the facial weakness on their daily life were based on the descriptions of the participant (–, –/+, +, ++, +++; reflecting no, mild, moderate, severe and very severe consequences).

Ricci G, Ruggiero L, Vercelli L, et al. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. J Neurol. 2016;263(6):1204–1214.

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Data availability statement

Due to the nature of this research, participants of this study did not agree for their data to be shared publicly, so supporting data are not available.