SMA Patients at Risk of Metabolic Disorder Known as Ketoacidosis, Case Study Shows
Patients with spinal muscular atrophy (SMA) are at risk of developing the metabolic disorder ketoacidosis, a less recognized complication that…
Articles by Magdalena Kegel
Proof-of-Concept Study May Have Found New Way of Treating SMA
Researchers may have discovered a new treatment for spinal muscular atrophy (SMA). Identifying a molecule that prevents the SMN2 gene…
Skin Cell Protein Suggested as Potential SMA Disease Severity Marker
The levels of SMN protein — the factor missing in spinal muscular atrophy (SMA) — in skin cells are proportional…
Researchers Identify Gene Causing Atypical SMA With Brain Degeneration in Infants
Japanese researchers have identified a new gene that likely gives rise to spinal muscular atrophy (SMA) with severe brain degeneration.
Steps Taken by Stem Cells in Becoming Neurons Identified in Study, Aiding Cell Replacement Therapies
Researchers have become quite good at making stem cells grow into neurons in the lab, even without fully understanding the actual…
Blocking Muscle Degrading Factors May Be Route to SMA Type 3 Treatment
Blocking molecules that normally act as muscle degrading factors may offer a treatment approach for milder forms of spinal muscular atrophy (SMA),…
Breathing Difficulties Linked to Ribcage Muscle Problems in Children with SMA
A poor contribution by the ribcage to breathing is a characteristic feature of children with spinal muscular atrophy (SMA) type…
SMA Symptoms May Partly Be Result of Liver Defects, Animal Study Reports
A lack of the survival motor neuron 1 (SMN1) protein, the gene mutated in spinal muscular atrophy (SMA), affected liver development…
SMA Muscle Breakdown Differs with Severity in Mouse Study, but Precedes Neuronal Death
In a study partly funded by Cure SMA, researchers from Ottawa Hospital Research Institute show that patterns of…
Mutations That Cause SMA May Also Protect Against Infection, Hinting at Why They Continue to Thrive
Diminished levels of the survival of motor neuron (SMN) protein causes spinal muscular atrophy (SMA), and also disrupts a process called endocytosis…