Table 1 Clinical features of DM2 patients in the Japanese pedigree
From: Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2
| Â | DM2 individuals | ||
|---|---|---|---|
Characteristic | Case 1 | Case 2 | Case 3 7 |
Age (years)/gender | 69/F | 61/M | 59/F |
Age at DM2 onset (years) | 64 | 50 | 47 |
Skeletal muscle features | |||
 Myotonia |  |  |  |
Grip/percussion | −/+ | −/− | +/+ |
EMG diagnosis | −/+ | − | + |
 Myalgia/stiffness | + | −/− | −/− |
 Muscle weakness/atrophy |  |  |  |
Facial muscles | + | − | + |
Sternocleidomastoids | + | + | + |
Limbs | Proximal dominant | Proximal dominant | Proximal dominant |
Systemic features | |||
 Cataracts, by history of extraction (age in years) | 59 | 62 | 52 |
 Diabetes, by history (age in years) | 33 | 40 | 47 |
 ECG | Normal | Normal | cRBBB |
 Holter monitoring | PVC | PVC | PVC |
 Other disorders | Asthma, HT, low IgG | Asthma, HT | Asthma, low IgG |
| Â | Hypercholesterolemia | Hypercholesterolemia | Hypercholesterolemia |
| Â | Hyperthyroidism | Â | Â |
Initial clinical diagnosis | LGMD | LGMD | Myotonic dystrophy |
