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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 ]
In addition, the aortomesenteric distance is 2–8 millimeters, as opposed to the typical 10–20. [1] However, a narrow SMA angle alone is not enough to make a diagnosis, because patients with a low BMI, most notably children, have been known to have a narrow SMA angle with no symptoms of SMA syndrome. [2]
Chest pain: This is a less common symptom, reported in 2.0% of cases. [2] It's important to differentiate this from chest pain caused by cardiac conditions. [3] ISMAD is more common in males, accounting for 80.6% of cases, and typically occurs in individuals in their fifth decade of life, with a mean age of 55.7 years. [2]
Distal spinal muscular atrophy type 1 (DSMA1) Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Distal hereditary motor neuronopathy type 6 (DHMN6) 604320: IGHMBP2: 11q13.3: Autosomal recessive: Affects mainly infant boys, similar to SMA type 1 but with diaphragmatic paralysis Distal spinal muscular atrophy type 2 (DSMA2)
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.
Depending on severity, common symptoms in pregnancy can develop into complications. Pregnancy symptoms may be categorized based on trimester as well as region of the body affected. Each pregnancy can be quite different and many people do not experience the same or all of the symptoms. If a person is concerned about their symptoms they should be ...
The study of later-onset SMA was a randomised controlled trial that enrolled 180 participants, aged between 2 and 25 years, with less severe forms of the disease. Participants treated with risdiplam for 12 months showed improvements in motor function compared to participants given a placebo.
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]