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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 ]
(A) He needs assistance to stand. (B) Advanced atrophy of the tongue. (C) There is upper limb and truncal muscle atrophy with a positive Babinski sign. (D) Advanced thenar muscle atrophy. [8] Signs and symptoms depend on the specific disease, but motor neuron diseases typically manifest as a group of movement-related symptoms. [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 ...
Note: Clinical diagnosis of X-linked spinal muscular atrophy type 2 should be considered for children who exhibit the following: [4] Evidence of degeneration and loss of anterior horn cells in the spinal cord and brain stem; Normal SMN1 molecular genetic testing to rule out autosomal recessive spinal muscular atrophy
Superior mesenteric artery compressing the duodenum, featuring the superior mesenteric artery syndrome. Superior mesenteric artery (SMA) syndrome is a gastro-vascular disorder in which the third and final portion of the duodenum is compressed between the abdominal aorta (AA) and the overlying superior mesenteric artery.
straight leg raise (see Lasègue's sign) SM: multiple sclerosis (from Latin sclerosis multiplex) submucosal Skeletal Muscle SMA: sequential multiple analysis superior mesenteric artery spinal muscle atrophy SMA-6: six-channel serum multiple analysis SMA-7: serum metabolic assay SMN: statement of medical necessity SMS: senior medical student SMT
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
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.
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related to: signs and symptoms of sma in children under 5 years later wiki novel reader