Brody disease
RSS feedBrody’s disease: reducing diagnostic delays by identifying mowing in childhood
As Brody’s disease is often diagnosed in adulthood, even though discomfort may have been present since childhood, a Dutch team has reviewed the observations of nine children, aged between 4 and 16, with an anomaly in the ATP2A1 gene, which is implicated in this pathology. Although their muscle mass and strength were normal, and some … [Read more]
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired muscle relaxation during and after exercise. Diagnosis relies on needle electromyography showing electrical silence, muscle biopsy with decreased sarcoplasmic reticulum calcium adenosine triphosphatase activity, and genetic analysis. Electrodiagnostic functional analyses are useful in the diagnosis of channelopathies, … [Read more]
Clinical, morphological and genetic characterization of Brody disease
Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. Almost 50 years after the initial case presentation, only 18 patients have been reported and many questions regarding the clinical phenotype and results of ancillary investigations remain unanswered, likely leading to incomplete recognition and consequently under-diagnosis. … [Read more]
