What Is Congenital Myopathy?

Congenital myopathy includes a variety of diseases, such as central axonopathy, mitochondrial myopathy, myotubular myopathy, congenital fibrous type imbalance, polyaxial empty disease, reducing myopathy, spheroid myopathy, etc. Its common features are: there are pathological changes at birth. Myopathy is non-progressive. The morphological angle suggests myopathy. About half have genetic factors. It is very difficult to identify clinically, and all have infant hypomuscular syndrome, or muscle weakness later, limited to the proximal or distal end, or throughout the body. Only a muscle biopsy, sometimes comprehensive analysis with histochemical techniques or electron microscopy, can make a clear diagnosis.

Congenital myopathy

Congenital myopathy includes a variety of diseases, such as central axonopathy, mitochondrial myopathy, myotubular myopathy, congenital fibrous type imbalance, polyaxial empty disease, reducing myopathy, spheroid myopathy, etc. Its common features are: there are pathological changes at birth. Myopathy is non-progressive. The morphological angle suggests myopathy. About half have genetic factors. It is very difficult to identify clinically, and all have infant hypomuscular syndrome, or muscle weakness later, limited to the proximal or distal end, or throughout the body. Only a muscle biopsy, sometimes comprehensive analysis with histochemical techniques or electron microscopy, can make a clear diagnosis.