Table 1.
Pt 1 | Pt 2 | Pt 3 | Pt 4 | Pt 5 | |
---|---|---|---|---|---|
Gender | M | M | F | F | F |
Age at onset | 40 | 53 | 55 | 60 | 45 |
Initial symptoms | Exercise intolerance, myalgia; progressive weakness in scapular and pelvic girdle |
Difficulty walking and climbing stairs |
Weakness in cervical girdle; slow progression of weakness in pelvic girdle |
Weakness in scapular girdle, slow progression of weakness in pelvic girdle |
Difficulty walking and climbing stairs. Exercise intolerance, progressive weakness in scapular and pelvic girdle |
Age at examination | 63 | 65 | 77 | 80 | 65 |
Clinical features |
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Serum CK | 116 U/L (n.v. 55–170) | 254 (n.v. 55–170) | 78 U/L (n.v. 55–170) | 155 U/L (n.v. 55–170) | 95 (n.v. 55–170) |
Cardiac examination | ECG: bradychardia:53/min EcoCG: global systolic function at lower limits (ischemic cardiomyopathy) |
ECG: normal EcoCG: dilation of aortic root; slight left atrial dilation |
ECG: normal EcoCG: sclerosis of aortic valve, slight mitral and tricuspid insufficiency |
ECG: normal EcoCG: slight mitral and tricuspid insufficiency, hypertensive cardiomyopathy. |
ECG: normal EcoCG: slight mitral and tricuspid insufficiency. |
EMG | Myopathic pattern proximal; mixed pattern (myopathic and neurogenic indicating radiculopathy) distal. |
Neurogenic findings indicating radiculopathy. |
Myopathic finding with rare fibrillation potentials on deltoid muscle |
Clear myopathic pattern more proximal |
Clear myopathic pattern more proximal |
Muscle pathology: light microscopy |
Partially α-amylase resistant PAS-positive inclusions |
Partially α-amylase resistant PAS-positive but not abundant inclusions |
Partially α-resistant PAS-positive inclusions visible in scattered fibers |
Numerous vacuoles in many fibers. α-amylase-resistant PAS-positive inclusions |
Nonspecific myopathic changes without vacuoles in two different biopsy (2009–2015) |