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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.
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.
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 ...
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]
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.
Affected babies have general muscle weakness, weak cry and floppy limbs; consequently, the condition is usually apparent at or even before birth. Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a different genetic defect and only genetic testing can correctly identify the ...
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]
The study supports that LSS incidence increases incrementally in the following age groups, 1.7–2.2% in 40–49 years old population, and 10.3%–11.2% in 70–79 years old population. [39] It is estimated that around 200,000 adults are affected by LSS in the United States and that by the year 2025, this number will rise to 64 million elderly ...