References | CaM [Tavian, 2012] [5] | CaAB [Tavian, 2012] [5] | MA This report | DLA [Campagna, 2008] [7] | DLC [Campagna, 2008] [7] | DE [Pennisi, 2015] [8] | RR [Campagna, 2008] [7] | GA [Pasanisi, 2016] [10] | RMC This report | BL [Missaglia, 2015] | BP [Missaglia, 2015] | BMC [Missaglia, 2015] [9] | RC [Tavian, 2012] [5] | CM68 [Massa, 2016] [11] | AZ [Fiorillo, 2013] [12] | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family | I | I | II | III | III | IV | V | VI | VII | VIII | VIII | VIII | IX | X | XI | |
Patient | I.1 | I.2 | II.1 | III.1 | III.2 | IV.1 | V.1 | VI.1 | VII.1 | VIII.1 | VIII.2 | VIII.3 | IX.1 | X.1 | XI.1 | |
Sex | F | M | F | M | M | F | F | M | F | M | M | F | M | M | M | |
Onset of symptoms | 25y | 40y | 47y | 34y | 35y | 58y | 18y | 1y | 40y | 40y | 35y | 58y | 64y | 45y | 5y | |
First symptom | M | M | M | M | M | M | M | M | M | M | M | HF | M | M | M | |
Years of disease | 44 | 22 | 24 | 16 | 10 | 16 | 34 | 26 | 13 | 20 | 15 | 2 | 15 | 2 | 9 | |
Age at last clinical examination | 69y | 62y | 74y | 50y | 45y | 74y | 52y | 26y | 53y | 60y | 50y | 60y | 79y | 47y | 14y | |
Weakness | proximal | UL*, LL | UL, LL | UL > LL | UL* LL | UL, LL | LL | UL*, LL | UL, LL | UL* > LL | UL | - | UL | UL | - | - |
distal | UL, LL | UL, LL | UL > LL | UL, LL | UL, LL | - | UL | LL, UL | - | - | UL, LL | - | UL | LL | - | |
axial | + | - | - | + | + | - | + | - | - | + | - | - | + | - | - | |
Other clinical features | - | - | - | SW | - | C | - | TTW | SW, CH | RI | SW | - | DH, HL | - | - | |
Exercise intolerance | + | + | + | + | + | + | + | + | + | + | + | - | - | + | - | |
Myalgias | + | + | - | - | - | + | - | + | - | - | + | - | - | + | - | |
Muscle cramps | + | + | - | - | - | - | - | - | - | + | + | - | - | - | - | |
Spine deformities | - | - | - | - | S | S | - | - | - | K | S | - | - | - | - | |
Cardiac involvement | HCM | - | HCM | LVHT | HCM | - | - | HCM | - | - | - | - | - | HCM | - | |
PMK/ICD implantation | - | - | - | PMK | - | - | - | - | - | - | - | - | - | - | - | |
Hepatic steatosis | + | - | - | + | + | - | + | - | - | + | + | + | + | + | - | |
Ichthyosis | - | - | - | transient | - | - | - | - | - | - | - | - | - | - | - | |
Jordans’ anomaly | 100% | 90% | 100% | 100% | 100% | 100% | 10% | 100% | 100% | 100% | 100% | 75% | 100% | 100% | 100% | |
Age at muscle biopsy | 44y | n. p | 57y | 35y | n. p | 58y and 72y | 40y | 8y and 21y | 49y | 39y and 40y | 37y | n. p | 70y and 71y | 44 y | 14y | |
Lipidosis in muscle biopsy | + | n. p | + | + | n. p. | - | + | + | + | + | + | n. p | + | + | + | |
EMG | My | Mp, My | My | Mp, My, SA | Mp, My | Mp, My | Mp, N | Mp | SA | Mp | n. p | n. p | N | Mp | Mp | |
Max CK value | 4X | 2.5X | 8X | 5X | 3X | 1.5X | 5X | 25X | 3x | 5X | 6X | 6X | 2X | 3X | 6X |