A Newborn With Spinal Muscular Atrophy Type 0 Presenting With a Clinicopathological Picture Suggestive of Myotubular Myopathy

Abstract

We report a male term newborn with genetically confirmed spinal muscular atrophy type 0, presenting with arthrogryposis and severe generalized weakness and requiring ventilatory support. Muscle biopsy revealed fibers with central nuclei resembling myotubes and negative myotubularin immunohistochemical staining compared with a control muscle biopsy. The absence of myotubularin associated with survival motor neuron protein deficiency suggests that survival motor neuron protein may have a role in muscle fiber maturation and myotubularin expression. Studying the pathology of this rare and lethal neonatal form of spinal muscular atrophy may further our understanding of spinal muscular atrophy pathogenesis.

Childhood spinal muscular atrophy and stem cell research: Is cellular replacement therapy the answer? (Review)

“…To date, there is no cure for individuals affected with SMA (10,11,20), yet the US National Institutes of Health have declared SMA to be the genetic condition closest to an effectual treatment or cure (10,11,20). Stem cell therapy, if successful, could theoretically delay onset and advancement of the disease, as well as potentially restoring lost function (10,11,20).…”

“…Stem cell therapy, if successful, could theoretically delay onset and advancement of the disease, as well as potentially restoring lost function (10,11,20).…”

“…In contrast to other neurodegenerative disorders such as spinal cord injury or stroke, where a multifaceted pathology affects many targets, only the spinal motor neurones are affected in SMA; hence, the target for therapy has been identified (10,11,20). In addition, the environment around the spinal cord in SMA individuals is more favourable for a potential graft (10,11,20).…”

“…In contrast to other neurodegenerative disorders such as spinal cord injury or stroke, where a multifaceted pathology affects many targets, only the spinal motor neurones are affected in SMA; hence, the target for therapy has been identified (10,11,20). In addition, the environment around the spinal cord in SMA individuals is more favourable for a potential graft (10,11,20). Type I infants would almost certainly have a better supply of blood and growth factors to the area than would be seen in, for instance, spinal cord injury, because these newborns are growing rapidly (10,11,20).…”

Spinal Muscular Atrophy: Journeying From Bench to Bedside

“…This is reflected in the persistence of the normal checkerboard pattern of type I and II fibers. In rare instances, muscle fibers from patients with severe SMA may also appear immature and myotube-like, with central nuclei suggestive of a centro-nuclear myopathy [15].…”