Disease Information for Myopathy, Desmin Storage type/Sarcoplasmin bodies

Myopathy, Desmin Storage; Cardiomyopathy Due to Desmin Defect; Desmin Storage Myopathy; Myopathy with Sarcoplasmic Bodies and Intermediate Filaments; Subdivisions: Autosomal Dominant Desmin Distal Myopathy with Late Onset; Cardiomyopathy Associated with Desmin Storage Myopathy; Congenital Proximal Myopathy Associated with Desmin Storage Myopathy; Desmin storage myopathy (DSM) is a rare inherited muscle disorder that may be apparent at birth (congenital) or may not appear until as late as age 40; Three forms of this disorder have been described in the medical literature; The symptoms and age of onset depend upon which form affects the individual; Symptoms of late onset desmin storage myopathy (autosomal dominant DSM) may include weakness of the muscles at the base of the thumb and/or weakness of the muscles used to flex the hand; Muscle weakness in the face, shoulder, and/or pelvic area, a spine that curves backward and to one side, and/or heart disease may occur in the congenital form of the disorder; The third form of desmin storage myopathy is characterized by heart disease (cardiomyopathy associated with DSM) that appears at variable ages and may lead to life-threatening complications.

(Edit)