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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 ]
She was born with spinal muscular atrophy and got her first motorized wheelchair in kindergarten. After graduating from Marywood University in Scranton with a Bachelor of Science in Clinical Psychology (2000), Sheypuk moved to New York City to pursue her Ph.D. She received her Ph.D. in Clinical Psychology from The New School for Social Research.
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.
Researchers in Australia have found a majority of newborns with type one spinal muscular atrophy (SMA) who had early access to treatment were able to walk independently or with help two years ...
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [1]
She was diagnosed with spinal muscular atrophy at 16 months and has used an electric wheelchair since age two. [3] Dectis graduated from the George Washington University in May 2015. [2] While in college, she became a member of Kappa Delta sorority. [4]
Spinal Muscular Atrophy: Pilot study of population-based newborn screening for spinal muscular atrophy in New York state [21] Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I [35] The motor neuron response to SMN1 deficiency in spinal muscular atrophy [36] Autism and Neurogenetics
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.
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