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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.
This category lists biographical articles about people who have or had spinal muscular atrophy. Pages in category "People with spinal muscular atrophy" The following 31 pages are in this category, out of 31 total.
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 ]
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.
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 ...
It stars Ami Ankilewitz, a 34-year-old Israeli 3D animator who lived with Spinal Muscular Atrophy (SMA). The documentary centers on his journey across the United States by motorhome to find the doctor who told his mother when he was born that he would not live past the age of 6. [2]
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]
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.