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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.
This includes amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.
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 ...
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.
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]
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Spondyloepimetaphyseal dysplasia, Strudwick type is inherited in an autosomal dominant pattern. Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism , characteristic skeletal abnormalities, and problems ...
MDA publishes a quarterly magazine, Quest, catering to people with neuromuscular diseases and their caretakers. Mindy Henderson, diagnosed with type 2 spinal muscular atrophy (SMA) and a patient advocate, is the editor-in-chief as of 2023.