Disease Information for Myopathy, Desmin Storage type/Sarcoplasmin bodies

Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Constipation Children
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscle weakness
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Associated Diseases & Rule outs
Rule Outs
Muscular dystrophy
Myotonia atrophica
Associated Disease & Complications
Metabolic Myopathy
Neonatal Hypotonia/Floppy Baby Syndrome
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Striated muscle disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)

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.


External Links Related to Myopathy, Desmin Storage type/Sarcoplasmin bodies
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)