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Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.
William Jennings Bryan Dorn Veterans Affairs Medical Center, University of South Carolina School of Medicine, Columbia, South Carolina Coordinates 33°58′39″N 80°57′40″W / 33.97750°N 80.96111°W / 33.97750; -80
Distal spinal muscular atrophy – X-linked (DSMAX) 300489: ATP7A: Xq21.1: X-linked recessive: Affects distal muscles of all extremities mainly in boys, slowly progressive DSMA: Distal spinal muscular atrophy type 1 (DSMA1) Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Distal hereditary motor neuronopathy type 6 (DHMN6 ...
People with spinal muscle atrophy (SMA), an inherited neuromuscular disease, usually experience muscle weakness that impacts movement. New research suggests that electrical spinal cord stimulation ...
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [ 3 ] [ 4 ] [ 5 ] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [ 6 ]
In January 2006, the 124 inpatient bed Prisma Health Heart Hospital, located on the Richland campus, opened its doors. The $80 million, 200,000-square-foot (19,000 m 2) hospital is the state's only freestanding facility specializing only in the prevention, diagnosis, and treatment of cardiovascular diseases.
Complications can include muscle atrophy, loss of voluntary motor control, spasticity, pressure sores, infections, and breathing problems. In the majority of cases the damage results from physical trauma such as car accidents , gunshot wounds , falls , or sports injuries , but it can also result from nontraumatic causes such as infection ...
This usually starts with the observation of bulk, possible atrophy or loss of muscle tone. Neuromuscular disease can also be diagnosed by various blood tests and using electrodiagnostic medicine tests [ 23 ] including electromyography [ 24 ] (measuring electrical activity in muscles) and nerve conduction studies . [ 25 ]