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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 ]
Autosomal recessive proximal spinal muscular atrophy, responsible for 90-95% of cases and usually called simply spinal muscular atrophy (SMA) – a disorder associated with a genetic mutation on the SMN1 gene on chromosome 5q (locus 5q13), diagnosed predominantly in young children and in its most severe form being the most common genetic cause ...
Spinocerebellar ataxia (SCA) is a progressive, degenerative, [1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right.
The condition has been called progressive muscular atrophy (PMA), [7] spinal muscular atrophy (SMA), [7] Aran–Duchenne disease, [6] [7] Duchenne–Aran disease, [6] Aran–Duchenne muscular atrophy, [7] and Duchenne–Aran muscular atrophy. The name "spinal muscular atrophy" is ambiguous as it refers to any of various spinal muscular ...
Molecular look into spinal muscular atrophy. Molecular genetic testing is the tool used to assess SMA. However, this test might not be needed if signs such as hypotonia are present. MRI scans and muscle biopsies used to be the standard testing method, but molecular testing is much more efficient.
Popular Wii sports video games include: Baseball. Bowling. Tennis. Golf. However, no one is tossing traditional games just yet, especially as most have noted brain-boosting benefits. These can ...
Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs.The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity.
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.