Calpainopathy
| Calpainopathy | |
|---|---|
| Other names | LGMDR1, LMGD2A |
| Calpainopathy overview | |
| Specialty | Neurology, neuromuscular medicine |
| Symptoms | proximal muscle weakness, scapular winging |
| Usual onset | 2 - 40 years of age |
| Duration | Long term |
| Types | Pelvifemoral, scapulohumeral, hyperCKemia, autosomal dominant |
| Causes | Genetic (inherited or new mutation) |
| Diagnostic method | Genetic testing |
| Differential diagnosis | Other LGMD2, facioscapulohumeral muscular dystrophy, dystrophinopathy, Metabolic myopathy |
| Management | Physical therapy, bracing, orthopedic surgery |
| Frequency | 1-9/100,000 |
Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). It preferentially affects the muscles of the hip girdle and shoulder girdle.
No disease modifying pharmaceuticals have been developed as of 2019, although physical therapy, lifestyle modification, and orthopedic surgery can address symptoms.