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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]
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.
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.
Dr. Cawley explains that while Andrew was once a U.S. Marshal, he was relieved of his duties two years prior after he shot his wife Dolores for drowning their three children in the lake behind ...
Bad at: Driving and directions, though she recently resumed driving on highways again after a 28-year hiatus. Ramp up your reading with her book pics below. Ramp up your reading with her book pics ...
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