Table 1 Phenotype presentations of EDMD that are reported to be associated with R453W
Age (y.o) | Sex | Onset (Age) | Inheri-tance | Phenotype | Cardiac | Ref |
|---|---|---|---|---|---|---|
8 | F | 2y | De Novo | Ankle contracture | Sinus arrhythmia | Fan et al. [13] |
4 | M | 2y | De Novo | Ankle contracture | Normal | Fan et al [13] |
14 | F | 4y | De Novo | Ankle contracture, scoliosis | Sinus tachycardia | Fan et al [13] |
8 | M | 2y | De Novo | Elbow & ankle contractures | Normal | Fan et al [13] |
54 | F | N/A | N/A | Muscle weakness and contractures | Dilated cardiomyopathy, conduction disease | Bernasconi et al. [14] |
21 | F | N/A | N/A | Muscle weakness and contractures | Dilated cardiomyopathy, conduction disease | Bernasconi et al. [14] |
4 | M | 2y | De Novo | Proximal lower limb weakness, both sides of ankle contractures | Normal | Lin et al. [14] |
14 | F | 4y | De Novo | Proximal and distal lower limb weakness. spine and both sides of ankle contractures | Tachycardia, ultrasonic cardiogram is normal | Lin et al. [15] |
3 | F | 1y | De Novo | LGMD, proximal lower limb weakness, both sides of ankle contractures | Normal | Lin et al. [15] |
29 | M | 4y | De Novo | Weakness in both legs, slow gait, ankle contracture, stiff neck, scoliosis | AV block I | Lee et al. [16] |
46 | M | N/A | De Novo | Wasting and weakness of the proximal muscles, mild Achilles and elbow contractures, slight spine rigidity, lumbar hyperlordosis | AV block III, AFib, SVT, Hypokinesia of IVS and anterior wall of LV, EF 15%, pacemaker | Madej-Pilarczyk et al. [8] |
36 | M | N/A | De Novo | Contracture, spine rigidity | SVEB, SVT, VEB, AV Block 1, ICD | Niebroj-Dobosz et al. [16] |
44 | M | N/A | AD | Contracture, spine rigidity | AV Block 1,2,3, atrial standstill, nsVT, EF 36%, Pacemaker, ICD | Niebroj-Dobosz et al. [17] |
21 | F | N/A | AD | Contracture, spine rigidity | SVEB, SVT, ICD | Niebroj-Dobosz et al.[17] |
34 | M | 8y | AD | Slowly progressive humero-peroneal muscular weakness. Rigid spine, elbow and Achilles contractures | AV Block III; pacemaker at age 31; died at age 34 of heart failure; | Meinke et al. [18] |
37 | N/A | N/A | N/A | LGMD, contractures | Afib | Magagnotti et al. [18] |
24 | M | N/A | AD | Mild proximal weakness. Neck and heel cord contractures | Echocardiogram shows mildly enlarged left atrium and ventricle, mild global hypokinesis and reduced systolic function, estimated LVEF 45% | Scharner et al. [19] |
36 | M | N/A | N/A | EDMD phenotype | First degree heart block | Scharner et al. [19] |
32 | M | N/A | De Novo | Limb-girdle, proximal, upper, distal lower muscle. Neck, elbow, ankle, knee contractures | Beta blockers at age 22, pacemaker at age 32 | Scharner et al. [19] |
19 | M | 4y | De Novo | Limb-girdle, proximal, upper, distal lower muscle. Neck, elbow, ankle contractures | Normal | Scharner et al. [19] |
28 | F | 6y | AD | Leg weakness (footdrop like gait). Elbow contracture | EMG-diffuse myopathic process; cardiac involvement | Scharner et al. [19] |
7 | M | 3y | De Novo | LGMD, proximal lower extremity weakness, hip contractures | Normal | Scharner et al. [19] |
32 | N/A | 4y | De Novo | No loss of ambulation | N/A | Deconinck et al. [20] |
42 | N/A | 2y | De Novo | Loss of ambulation | N/A | Deconinck et al. [20] |
27 | N/A | 1y | AD | No loss of ambulation | N/A | Deconinck et al. [20] |
4 | F | 2y | AD | Proximal limb muscle weakness, lordosis, calf hypertrophy | Normal | Park et al. [21] |
N/A | F | 10y | AD | Generalized muscle atrophy, spine rigidity, and spine, elbow, knee, ankle contractures | SVEB, SVT | Niebroj-Dobosz et al. [22] |
1 patient | N/A | N/A | N/A | Proximal limb weakness without joint contracture, LGMD 1B | Cardiomyopathy with conduction defect in 34 yo patient | Astejada et al. [23] |
5 patients | N/A | N/A | N/A, AD | Joint contractures. 2 patients have rigid spine syndrome. 1 patient has humeroperoneal muscle involvement with Achilles and elbows contractures, and hind neck | Astejada et al. [23] | |
47 | F | N/A | AD | N/A | Afib, ICD | Golzio [24] |
49 | M | 6y | De novo | Elbows and achilles contractures, rigid spine | Afib with appropriately functioning VVIR, Pacemaker | Sanna et al. [25] |
16 | NA | N/A | N/A | Shoulder, hip, elbow, ankle, rigid spine contractures | None | Vytopil, et al.[26] |
10 | NA | N/A | AD | Rigid spine | None | Vytopil, et al. [26] |
46 | NA | N/A | N/A | Rigid spine, axial and proximal myopathies | Conduction defects, pacemaker | Vytopil, et al. [26] |
15 | F | 2y | AD | Proximal weakness. elbow, ankle contractures, mild neck stiff, rigid spine | Normal | Colomer et al. [27] |
12 | F | 2y | AD | Proximal weakness. elbow, ankle contractures, slight neck stiff, rigid spine | Normal | Colomer et al. [27] |
46 | F | 7y | De novo | Proximal weakness. elbow, ankle contractures, stiff neck rigid spine, wheelchair bound 44 years | AV Block 26 y, pacemaker 31 y | Colomer et al. [27] |
38 | M | Childhood | AD | Limb girdle, upper, proximal, distal, lower muscle weakness. elbow and neck contractures | Pacemaker | Bower et al. [28] |
33 | M | N/A | AD | Muscle weakness, distal wasting, rigid spine, Achilles contractures and sometimes elbows | Arrythmia | Sewry, et al. [29] |
35 | M | N/A | AD | Arrythmia | Sewry, et al. [29] | |
10 months | M | N/A | AD | Normal | Sewry, et al. [29] | |
17 | M | N/A | AD | Ventricular dysfunction | Sewry, et al. [29] | |
19 | N/A | 3y | De Novo | Both arms wasting, stiff neck, elbow, hip, Achilles contractures | Arrythmia, ventricular dysfunction | Bonne, et al. [30] |
33 | N/A | 8y | De Novo | Humeroperoneal wasting, elbow, hip, Achilles contractures, stiff neck, rigid spine, kyphosis | Pacemaker | Bonne, et al. [30] |
39 | M | 4y | AD | Mild proximal wasting, elbow, hip, Achilles contractures, stiff neck, rigid spine, scoliosis | Arrhythmia, normal echocardiography | Bonne, et al. [30] |
40 | M | 5y | AD | Proximal wasting, scapular winging, elbow, hip, Achilles contractures, stiff neck, rigid spine, scoliosis | Arrhythmia normal echocardiography | Bonne, et al. [30] |
9 | M | 3y | AD | Scapuloperoneal wasting, elbow, Achilles contractures, stiff neck, rigid spine | Normal | Bonne, et al. [30] |
7 | F | 4y | AD | Scapuloperoneal wasting, elbow, achilles contractures, stiff neck, rigid spine | Normal | Bonne, et al. [30] |
49 | M | N/A | De Novo | Atypical EMD | Pacemaker, Restrictive cardiomyopathy, died et causa cardiac arrest | Di Barletta et al. [31] |
39 | M | N/A | X-linked | X-EMD or Rigid Spine Syndrome | Pacemaker | Di Barletta et al. [31] |
42 | M | N/A | X-linked | X-EMD or Rigid Spine Syndrome | Tachyarrhythmia and AV block | Di Barletta et al. [31] |
21 | M | N/A | X-linked | X-EMD | None | Di Barletta et al. [31] |