Spinal Muscular Atrophy

Abstract

Incidence The incidence of SMA is 1:11,000 live births [1]. Prevalence The prevalence of the carrier state is approximately 1 in 54 [1]. Severity The clinical severity of SMA correlates inversely with SMN2 gene copy number and varies from an extreme weakness and paraplegia of infancy to a mild proximal weakness of adulthood. Natural History The natural history of SMA is complex and variable. For this reason, clinical subgroups have been defined based upon best motor function attainment during development. Type 1 SMA infants never sit independently. Type 2 SMA children sit at some point during their childhood, but never walk independently. And Type 3 SMA children and adults are able to walk independently at some point in their childhood.

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

“…One such disorder is spinal muscular atrophy (SMA), an autosomal recessive motor neuron disease that is a leading genetic cause of infant mortality [13;14]. However, as is the case for many neurodegenerative disorders, SMA has a wide range of phenotypes.…”

Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy

“…Proximal SMA is an autosomal recessive early-onset neurodegenerative disease characterized by the loss of α-motor neurons in the anterior horn of the spinal cord which leads to muscle weakness and atrophy (Crawford and Pardo 1996; Kolb and Kissel 2015). Proximally innervated muscles are preferentially affected over distal muscles in SMA.…”

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“…Type I SMA (1-2 SMN2 copies) tends to have an early onset; the patient dies before the age of 2 years. Patients with disease types III and IV have 3 or more copies of SMN2; in this case the onset of the disease is either juvenile or adult, and the progression is slow [72].…”