Brody myopathy

The Brody disease, also Brody myopathy, is a rare genetic muscle disorder which usually manifests itself in childhood. The disease frequency (incidence) is estimated to be 1:10000000. It is caused by a reduced activity of SERCA1 in skeletal muscle, transports a Ca2 -ATPase of the sarcoplasmic reticulum calcium towards the gradient from the cytosol into the lumen of the sarcoplasmic reticulum. The encoding gene is ATP2A1. The disease can be inherited in both autosomal recessive and autosomal dominant.

Disease

The disease is characterized by delayed muscle relaxation (relaxation) of the muscle after muscle contraction, similar to myotonic disorders. The muscles are stiff especially pronounced after activity and need a few minutes to complete relaxation. The creatine kinase ( CK) is normal or slightly increased. Electromyography did not show no myotonic discharges or pseudomyotonen, even during muscle stiffness.

History

The disease was named after the discoverer and describer Irvin A. Brody, who published in 1969 the first case in the New England Journal of Medicine.