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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 ]
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 condition has been called progressive muscular atrophy (PMA), [7] spinal muscular atrophy (SMA), [7] Aran–Duchenne disease, [6] [7] Duchenne–Aran disease, [6] Aran–Duchenne muscular atrophy, [7] and Duchenne–Aran muscular atrophy. The name "spinal muscular atrophy" is ambiguous as it refers to any of various spinal muscular ...
Spinal muscular atrophy, or SMA, was the leading cause of genetic deaths in babies, but screenings and new treatments are now helping kids thrive. Spinal muscular atrophy, or SMA, was the leading ...
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.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, [1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right.
A 23-year-old model with spinal muscular atrophy is shaking up the fashion industry! Video courtesy of @shelbykinsxo on TikTok and Instagram
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle loss (), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. [1]
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