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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 ...
[1] [2] They include amyotrophic lateral sclerosis (ALS), [3] [4] 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. Motor neuron diseases affect both children and ...
The team also looked at 18 other children, who were found to have the condition following clinical referrals after showing symptoms. All were assessed for the two years after diagnosis.
People with spinal muscle atrophy (SMA), an inherited neuromuscular disease, usually experience muscle weakness that impacts movement. New research suggests that electrical spinal cord stimulation ...
A child with these symptoms are likely to have X-linked spinal muscular atrophy. In order to confirm this the most practical measures to take next are: [8] to perform a normal SMN1 molecular genetic testing to rule out autosomal recessive spinal muscular atrophy
Physical and occupational therapy for the child can be very effective in maintaining muscle strength. [6] There is no published practice standard for the care in DSMA1, even though the Spinal Muscular Atrophy Standard of Care Committee [further explanation needed] has been trying to come to a consensus on the care standards for DSMA1 patients.
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.
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