Spinal muscular atrophy (SMA) is inherited in an autosomal recessive manner and is caused by abnormalities in the survival motor neuron 1 (SMN1) gene. The overwhelming majority of patients with SMA have a homozygous deletion of the gene; only 5% of cases have a heterozygous deletion and a point mutation. “The SMN protein is critical…
Spinal muscular atrophy has been linked with increased adiposity and fatty acid oxidation defects in patients with the disease.
We review the role of BMI as a health measurement in general, and specifically in people with SMA type 2.
The acceleration of telemedicine during the pandemic has allowed us to gain vast insights into what works and what does not.
We explore capsid-engineering gene therapy as a promising novel treatment for patients with spinal muscular atrophy, even those who are presymptomatic.
We explore the genetics underpinning spinal muscular atrophy (SMA) and the merits of gene therapy in the management of patients with SMA.
How do novel therapies for spinal muscular atrophy (SMA) perform against the respiratory function decline caused by the disease?
In recent years, one of the great leaps in medical advancements has been the development of drugs such as risdiplam, which is used to treat spinal muscular atrophy (SMA). It is the first drug to be approved as a survival motor neuron 2 (SMN2) mRNA splicing modifier. Dhillon did an excellent job describing the key…
We discuss the various ethical considerations in genetic screening and gene therapy for spinal muscular atrophy (SMA).