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The respiratory system is the most common system to be affected and the complications are the leading cause of death in SMA types 0/1 and 2. SMA type 3 can have similar respiratory problems, but it is more rare. [24] Complications arise due to weakened intercostal muscles because of the lack of stimulation from the nerve.
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [1]
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.
[1] [3] The disease does not affect life expectancy. [1] However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis. [1] Ultimately, SMAJ can lead to reduced ability in motor function for skills such as walking. SMAJ may also reduce one's nerve function and ability to sense vibrations. [4]
Deaths in Singapore offset the population increase from live births. In 2007, 17,140 people in Singapore died from various causes. The death rate was 4.5 deaths per 1,000 of the population. [1] There are strict regulations surrounding death and treatment of the body after death.
The Singapore Medical Association (abbreviated SMA) is a professional association representing the interests of medical professionals in Singapore. It was established on September 15, 1959, replacing the Malaya Branch of the British Medical Association. [2] As of 2020, it had over 8,200 members. [3]
SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. [2] SMN deficiency, primarily due to mutations in SMN1, results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.
Only 12 known human families are described in scientific literature to have SMA-PME. [2] SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner. [3] SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis. [4]