Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons resulting in hypotonia, progressive muscular weakness and atrophy.30 Spinal muscular atrophy is one of the leading hereditary causes of infant mortality,31 it comprises the second most common fatal progressive diseases after cystic fibrosis.28 Spinal muscular atrophy is the most common...

Moosa, A., and Dubowitz, V. (1973). Archives of Disease in Childhood, 48, 386. Spinal muscular atrophy in childhood: two clues to clinical diagnosis. A coarse tremor was noted in 13 children suffering from the childhood form of spinal muscular atrophy. Tremor has not been seen in any other condition producing proximal muscle weakness in childhood, and its presence should therefore suggest the d...

Spinal muscular atrophy is distinct among neurodegenerative conditions of the motor neuron, with onset in developing and maturing patients. Furthermore, the rate of degeneration appears to slow over time, at least in the milder forms. To investigate disease pathophysiology and potential adaptations, the present study utilized axonal excitability studies to provide insights into axonal biophysic...

Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources...

Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy. We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension. During the studies, 73 lumbar punctures were performed in 28 patients 2 to 14 years of age with type 2/3 spinal ...

background: spinal muscular atrophy (sma) is the second most common lethal autosomal recessive disease. it is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. the smn1 gene is recognized as a sma causing gene while naip has been characterized as a modifying factor for the clinical s...

In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited ...