Table 1.
Main patients’ characteristics and MFM scores
| Diagnosis | N | Age (y) | M/F | Ambulant (%) | MFM Score
|
|||
|---|---|---|---|---|---|---|---|---|
| 13-Item D1 | 12-Item D2 | 7-Item D3 | 32-Item total | |||||
| CMs | 98 | 21.1±17.2 | 43/56 | 75.9 | 57.9±30.7* | 84.8±19.5 | 90.5±12.3 | 75.2±20.1 |
| Nemaline myopathy | 15 | 25.6±23.4 | 4/11 | 60 | 50.4±36.3 | 82.6±20.6 | 87.9±11.4 | 70.7±22.5 |
| Centronuclear myopathy | 10 | 28.4±15.0 | 3/7 | 90 | 55.9±23.1 | 82.8±24.7 | 87.6±20.7 | 72.9±22 |
| Central core disease | 20 | 22.8±17.6 | 9/11 | 78.9 | 59.2±30.4 | 89.1±19 | 94.3±9.6 | 78.1±19.2 |
| Multiminicore disease | 13 | 16.1±10.3 | 8/5 | 84.6 | 56±32.6 | 81.2±17.6 | 91.6±9.2 | 73.2±19.1 |
| Other CM | 40 | 17.9±16.1 | 18/22 | 84 | 59.3±29.1 | 84.5±17.9 | 90±12.1 | 75.5±18.9 |
| CMD | 191 | 14.8±11.0 | 86/83 | 56.8 | 37.2±32.3 | 73.1±27.1 | 81.6±20.4 | 60.5±24.8 |
| Laminin α2-deficient CMD | 43 | 12.2±7.7 | 16/20 | 48 | 21.3±29.9 | 62.1±32.9 | 71.1±26.2 | 49.7±28.3 |
| Collagen VI–related CMD | 100 | 16.1±12.0 | 46/48 | 58.3 | 41.4±31.5 | 78.6±23.1 | 87.1±15.2 | 64.6±21.7 |
| Abnormal glycosylation of dystroglycan | 8 | 12.8±6.6 | 4/4 | 62.5 | 54.2±35.1 | 74±34.6 | 72.6±30.4 | 65.6±32.6 |
| Other CMD | 40 | 17.4±11.3 | 22/16 | 57.9 | 39.6±31.7 | 72.8±26.2 | 84.1±17.6 | 61.8±23.8 |
| Whole sample | 289 | 17.4±13.9 | 129/139 | 59.75 | 44.1±33.3 | 77.4±25.4 | 85.1±18.6 | 65.6±24.3 |
NOTE. Values are mean ± SD unless indicated otherwise.
Abbreviations: F, female; M, male.
*
Score ± SD expressed as the percent of maximum possible score in each MFM domain and total score.