Junction: Spinal Muscular Atrophy

Wheelchair Hockey Can Improve Well-Being for Patients With SMA or DMD

Patients with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) who participated in wheelchair hockey had higher physical and psychological well-being scores than patients who did not participate in sports, according to a new Italian study. The results, published in the journal PM&R, found higher scores on the Quality of Life Index (QLI) as…

Upper Limb Function Decline Observed in Patients With SMA Could Help Future Research

Researchers discovered that upper limb function progressively declined in patients with spinal muscular atrophy (SMA) types 2 and 3 over a 24-month period, according to a study published in Neuromuscular Disorders. SMA causes progressive muscle weakness and atrophy; recently, attention has shifted towards quantifying these changes in the upper limbs. The Revised Upper Limb Module…

Rehabilitative Hand Exoskeleton Tested in Patient With Spinal Muscular Atrophy

A new prototype for a hand exoskeleton system (HES) has been designed and tested in a patient with spinal muscular atrophy (SMA), as detailed in Frontiers in Neurorobotics. The new HES is intended to provide assistance during activities of daily living as well as telerehabilitation. Researchers from the Mechatronics and Dynamic Modeling Laboratory in the…

Newly Developed Multiplex Network Could Improve Rare Disease Research

Researchers in Austria developed a multiplex network by mapping genes and their interactions on multiple levels, which can help better identify genetic defects and study their consequences.  To build the network, the team led by Jörg Menche, PhD, adjunct principal investigator at the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences…

New Biomarkers Could Monitor Treatment Response in Infants With SMA

A new study established associations between the levels of circulating neurofilaments (NFs) and spinal muscular atrophy (SMA) pathology and response to treatments, published in Molecular Therapy: Methods & Clinical Development. “In the present study, in a real-world clinical setting, we demonstrate that circulating [phosphorylated neurofilament heavy chain] and [neurofilament light chain] concentrations are elevated in…

Newborn Screening for SMA Feasible in the UK

Newborn screening for spinal muscular atrophy (SMA) using real-time polymerase chain reaction (PCR) is feasible within the current laboratory infrastructure in the UK, demonstrated a new study published in a special issue of the International Journal of Neonatal Screening. There is currently no newborn screening program for SMA in the UK.  A team of researchers…

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