Background Rare diseases can lead to a significant reduction in quality of life for patients
and their families. Ensuring the patients voice is central to clinical decision making is key to …

Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor
neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The …

Introduction There is a growing need for a robust clinical measure to assess upper limb
motor function in spinal muscular atrophy (SMA), as the available scales lack sensitivity at …

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function
mutations in the survival motor neuron 1 gene, which results in a broad range of disease …

2. Background Spinal muscular atrophy (SMA) is one of the most common neuromuscular
diseases. While SMA is a monogenic disorder, there is a broad range of phenotypes from …

Objective To assess longitudinal patterns of muscle strength, motor function, and maximal
compound muscle action potential amplitudes (CMAPMAX) in older patients with spinal …

Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome
measure design and demands from regulatory authorities require that clinical outcome …

Spinal muscular atrophy (SMA) is a neurodegenerative disorder showing a broad clinical
spectrum and no cure to date. To design and select evaluation criteria for the potential …

Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease
which affects 1 in 6,000–10,000 live births, caused by loss of the survival motor neuron 1 …

Spinal muscular atrophy (SMA) is a genetic condition characterized by progressive
motoneuron loss. Infants affected by SMA type 1 do not gain developmental milestones and …