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SMA 4 (Adult onset) Adulthood This denotes the adult-onset form, sometimes also classified as a late-onset SMA type 3. It occurs in approx. 5% of patients and usually manifests in the third or fourth decade of life. The symptoms consist of gradual weakening of leg muscles, which frequently makes it necessary for the patient to use walking aids.
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 ...
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.
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.
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]
Isolated superior mesenteric artery dissection (ISMAD) is a rare but potentially life-threatening condition that causes acute abdominal pain. It refers to a dissection that occurs solely in the superior mesenteric artery (SMA), typically spontaneously, and does not involve the aorta. [1]
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.
Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle bulk and weakness in the legs but sparing the cranial nerves, and beginning its clinical course after age 40. [1]
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