Spinal muscular atrophy (SMA) is a lower motor neuron disease due to biallelic mutations in
the SMN1 gene on chromosome 5. It is characterized by progressive muscle weakness of …

Since the introduction of disease modifying treatments there is an unmet need to identify
biomarkers of spinal muscular atrophy (SMA) natural history. We performed a systematic …

The description of group-level, genotype-and phenotype-associated imaging traits is
academically important, but the practical demands of clinical neurology centre on the …

Introduction Pseudobulbar affect (PBA) is a distressing symptom of a multitude of
neurological conditions affecting patients with a rage of neuroinflammatory, neurovascular …

Background and purpose Mos scales currently used to evaluate spinal muscular atrophy
(SMA) patients have only been validated in children. The aim of this study was to assess the …

Background Impairment of bulbar function in adult individuals with spinal muscular atrophy
(SMA) usually is not assessed by established motor scores. Measurements of oral function …

Background The therapeutic landscape of spinal muscular atrophy (SMA) was dramatically
transformed with the introduction of three disease-modifying therapies (DMTs). A systematic …

Background: The cerebellum integrates a multitude of motor and cognitive processes
through ample spinal and supratentorial projections. Despite emerging evidence of adaptive …

Introduction The clinical application of disease modifying therapies has dramatically
changed the paradigm of the management of people with spinal muscular atrophy (SMA) …

Background Spinal muscular atrophy (SMA) is a rare debilitating condition with a significant
burden for patients and society. However, little is known about how it affects Saudi Arabia's …