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The age of onset and the severity of symptoms form the basis of the traditional classification of spinal muscular atrophy into a number of types. [ 4 ] Spinal muscular atrophy is due to an abnormality ( mutation ) in the SMN1 gene [ 1 ] [ 2 ] which encodes SMN , a protein necessary for survival of motor neurons . [ 8 ]
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 ...
[2] SMA syndrome is also known as Wilkie's syndrome, cast syndrome, mesenteric root syndrome, chronic duodenal ileus and intermittent arterio-mesenteric occlusion. [3] It is distinct from nutcracker syndrome, which is the entrapment of the left renal vein between the AA and the SMA, although it is possible to be diagnosed with both conditions. [4]
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.
X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting .
The first symptoms include muscle cramps and muscle twitches affecting the upper and lower limbs. They appear usually after age of 40. The disease is slowly progressive with adult onset and results in weakness and mild muscle atrophy. [1] [3] The disease does not affect life expectancy. [1]
Abdominal pain: This is the most common symptom, reported in 55.8% of cases. [2] The pain can be sharp, dull, constant, or intermittent. [3] Epigastric pain: This pain is experienced by 22.7% of patients, [2] in the upper middle of the abdomen, just below the ribs. [3] Periumbilical pain: This type of pain, reported in 4.8% of cases, [2] is ...
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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