Intrathecal Injections in Children With Spinal Muscular Atrophy

Intrathecal Injections in Children With Spinal Muscular Atrophy

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 ...

Spinal Muscular Atrophy: A Short Review Article

Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

Dysphagia in children with spinal muscular atrophy type II

Introduction (1) Spinal muscular atrophy (SMA) (1 : 6000 newborns) [1] Degeneration of anterior horn cells (motor neurons) in the spinal cord Weakness and muscular atrophy Four types of SMA SMA type II is characterized by the ability to maintain an unsupported sitting position. In patients with SMA type II: • problems with mouth opening, chewing, swallowing (more with solid food) and choking mo...

Resistance strength training exercise in children with spinal muscular atrophy.

INTRODUCTION Preliminary evidence in adults with spinal muscular atrophy (SMA) and in SMA animal models suggests exercise has potential benefits in improving or stabilizing muscle strength and motor function. METHODS We evaluated feasibility, safety, and effects on strength and motor function of a home-based, supervised progressive resistance strength training exercise program in children wit...

Occlusal characteristics of children with spinal muscular atrophy.