Less than a decade ago, patients diagnosed with Spinal Muscular Atrophy (SMA) had no treatments other pulmonary, gastrointestinal, and orthopedic care. These palliative were focused on managing symptoms did not address the cause of disease itself. Now, there are several FDA (U.S. Food Drug Administration) approved drugs to treat SMA, which can stop or slow progression. In order discuss developm...

INTRODUCTION Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. It is the second most frequent autosomal recessive disease among Caucasian populations with a prevalence of between 1 in 6000 and 1 in 10,000 live births, and a carrier frequency of about 1 in 50. The Internati...

BACKGROUND Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and is typified by the loss of spinal cord motor neurons, muscular atrophy, and in severe cases, death. The SMN protein is ubiquitously expressed and various cellular- and tissue-specific functions have been investigated to explain...

Spinal muscular atrophy (SMA) is a rare genetic disease characterized by degeneration of spinal cord motor neurons, which results in hypotonia and muscle weakness. Patients with type IV SMA often have onset of weakness from adulthood. Anesthetic management is often difficult in these patients as a result of muscle weakness and hypersensitivity to neuromuscular blocking agents as shown by (Lunn ...

Spinal muscular atrophy (SMA), one of the most common fatal autosomal recessive diseases, is characterized by degeneration of motor neurons and muscular atrophy. The SMA disease gene, termed Survival of Motor Neurons (SMN), is deleted or mutated in over 98% of SMA patients. The function of the SMN protein is unknown. We found that SMN is tightly associated with a novel protein, SIP1, and togeth...

This paper describes the development and preliminary testing of a functional upper-limb orthosis for people that have limited strength in their arms. This is symptomatic of conditions such as muscular dystrophy (MD), spinal muscular atrophy (SMA), and partial spinal cord injury. The exoskeletal orthosis is wheelchair mounted, has two links and four degrees of freedom. It uses linear elastic ele...

Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. SMA is caused by loss of functional survival motor neuron 1 (SMN1), resulting in death of spinal motor neurons. Current therapeutic research focuses on modulating the expression of a partially functioning copy gene, SMN2, which is retained in SMA patients. However, a treatment strategy that improves the SMA phen...

Spinal muscular atrophy (SMA) is an important cause of death in children and SMA type I, also known as Werdnig-Hoffman disease, is the most severe form of this disease. We report 2 cases of infants with SMA I in whom a distal necrosis developed, a feature not previously reported. Poor perfusion, autonomic dysfunction, and position-dependent factors may all play a role in the development of this...

Autosomal recessive spinal muscular atrophy (SMA) shows substantial phenotypic variability, presenting at a variety of ages from infancy to adult life. Diagnostic difficulties may arise because SMA sometimes produces a dystrophic or myopathic phenotype rather than classical neurogenic abnormalities. Two brothers are described who illustrate this principle and highlight the increasing importance...

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and one of the most common genetic causes of infant death. The loss or mutation of the SMN1 gene results in reduced SMN protein level leading to motor neuron death and progressive muscle atrophy. Although recent progress has been made in our understanding of the molecular mechanisms underlying the pathogenesis of ...