Renske I. Wadman

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Monoclonal gammopathy in patients with amyotrophic lateral sclerosis (ALS) and related disorders has been reported in small studies but the validity of the reported associations remains uncertain. Presence of monoclonal gammopathy may indicate specific pathogenic pathways and may facilitate the development of novel treatment strategies. The objective of(More)
OBJECTIVE Spinal muscular atrophy (SMA) is pathologically characterized by degeneration of anterior horn cells. Recent observations in animal models of SMA and muscle tissue from patients with SMA suggest additional abnormalities in the development and maturation of the neuromuscular junction. We therefore evaluated neuromuscular junction function in SMA(More)
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas(More)
INTRODUCTION To improve care for patients with spinal muscular atrophy (SMA), we assessed the physical and mental quality of life (QoL) in 62 adult patients with SMA. METHODS Physical component scores (PCS) and mental component scores (MCS) of the Short Form-36 Health Survey (SF-36) were obtained. Correlations with demographics, disease severity, and(More)
OBJECTIVE We performed a study in patients with proximal spinal muscular atrophy (SMA) to determine the prevalence of reduced maximal mouth opening (MMO) and its association with dysphagia as a reflection of bulbar dysfunction and visualized the underlying mechanisms using MRI. METHODS We performed a cross-sectional study of MMO in 145 patients with SMA(More)
BACKGROUND Spinal muscular atrophy (SMA) is caused by the homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene produces small amounts of full-length mRNA and functional SMN protein, due to a point mutation in a critical splicing site. Increasing SMN protein production by histone deacetylase inhibiting drugs such as(More)
OBJECTIVE In a cross-sectional study, we aimed to determine (1) the effect of spinal muscular atrophy (SMA) type 2 and 3 on mandibular function reflected as masticatory performance, mandibular range of motion, and bite force and (2) the predictors of mandibular dysfunction. METHODS Sixty patients with SMA type 2 and 3 (mean age 32.3 years, SD 17.4 years)(More)
BACKGROUND Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA) are currently underway. Biomarkers that document treatment-induced effects are needed because disease progression in childhood forms of SMA is slow and clinical outcome measures may lack sensitivity to detect meaningful changes in motor function(More)
BACKGROUND Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein.(More)
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