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5q spinal muscular atrophy; Autosomal recessive proximal spinal muscular atrophy; Werdnig–Hoffmann disease / Kugelberg–Welander disease; 253300 253550 253400 271150: SMN1: 5q13.2: Autosomal recessive: Affects primarily proximal muscles in people of all ages, progressive, relatively common XLSMA: X-linked spinal muscular atrophy type 1 (SMAX1)
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 ]
Public awareness of the disease gained prominence upon the diagnosis of baseball player Lou Gehrig, whose name would become an alternative title for the disease. Astrophysicist Stephen Hawking, whose ALS was diagnosed in 1963, had the disease for 55 years, the longest recorded time one had the disease. He died at the age of 76 in 2018.
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.
Molecular look into spinal muscular atrophy. Molecular genetic testing is the tool used to assess SMA. However, this test might not be needed if signs such as hypotonia are present. MRI scans and muscle biopsies used to be the standard testing method, but molecular testing is much more efficient.
Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs.The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity.
Nusinersen became FDA approved in 2016 as the first treatment for spinal muscular dystrophy (SMA). [53] As of 2018, MDA had a total funding commitment of more than $58 million distributed among 312 research grants. [54] By 2019, MDA supported 252 research projects worldwide, totaling a funding commitment of more than $66 million. [55]
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] However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis. [1]