Spinal muscular atrophy (SMA) is a disorder characterized by muscle atrophy and weakness. It is inherited in an autosomal recessive manner and is caused by mutations/deletions in the SMN1 gene, which ensures adequate levels of survival motor neuron proteins in the body. Patients with SMA tend to experience proximal muscle weakness, especially in the lower…
Studies indicate that the presymptomatic treatment of infants with spinal muscular atrophy can lead to better outcomes.
Two clinical studies examined the efficacy of nusinersen in preventing further clinical decline in patients with SMA.
Scientists characterized the growth patterns of children with SMA type 1 or 2 using weight and supine length parameters.
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 share a case study of a pregnant woman with SMA type 3 and pertinent issues relating to her care.
We explore capsid-engineering gene therapy as a promising novel treatment for patients with spinal muscular atrophy, even those who are presymptomatic.
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