Table 1.

Clinical and laboratory findings in the five patients.

	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	Waddling gait, can walk only 50 m without aid, for greater distances needs a walker. Hyperlordosis. Cannot climb stairs, rise from ground or lift his arms.	Waddling gait for unlimited distances. Hyperlordosis. Right winging scapula Gowers sign.	Waddling gait for few meters at home; uses walker outside. Hyperlordosis; Cervical and dorsal kyphosis Cannot climb stairs, rise from ground or lift her arms.	Waddling gait for small distances using a cane. Hyperlordosis. Cannot climb stairs, rise from ground or lift her arms.	Waddling gait for few meters at home. Hyperlordosis. Cannot climb stairs, rise from ground.
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)