Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population

ConclusionsPublic acceptability is a key component in the evaluation of any potential screening program in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The importance of early identification overrode all other social and ethical concerns about screening for the majority of participants. Very little is known about the views of the general population toward newborn screening for spinal muscular atrophy, even though this is currently the focus of intense policy debates. Using an online survey (n = 232), this study demonstrates that the public is largely supportive of SMA newborn screening and believe its benefits outweigh its limitations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

Related Links:

Conclusions The trunk of patients with spinal muscular atrophy is weaker compared with healthy controls, reflected by reduced trunk torques and decreased active range of motion. In addition, patients with spinal muscular atrophy use high percentages of their trunk muscle capacity to perform tasks. Clinicians should take this into account for intervention development, because using high percentages of the maximum muscle capacity results in fatigue and muscle overloading.
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: Original Research Articles Source Type: research
Classic autosomal recessive Spinal Muscular Atrophy (SMA) is a group of disorders characterised by progressive muscular paralysis and atrophy due to degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. SMA results from homozygous deletions or mutations in the SMN1 gene on chromosome 5q13, which encodes the survival motor neuron protein 1 leading to destruction of the anterior horn cells [1]. Typical presentation is in the infantile period with areflexia, hypotonia, respiratory insufficiency and delayed motor milestones.
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research
Risdiplam, an oral investigational agent designed to increase and sustain SMN protein levels of patients with spinal muscular atrophy (SMA), met the primary endpoint in the pivotal part 2 of the SUNFISH trial.Medscape Medical News
Source: Medscape Neurology and Neurosurgery Headlines - Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news
Several effective therapies have been developed for spinal muscular atrophy (SMA), but there are multiple diseases that show SMA-like symptoms, necessitating efficient differential genetic diagnostic methods. Advancements in next-generation sequencing (NGS) technology have facilitated the successful diagnosis of many undiagnosed genetic diseases. Here, we applied NGS along with conventional methods for the molecular diagnosis of undiagnosed patients with lower motor neuron (LMN) symptoms who were initially suspected to have SMA.
Source: Brain and Development - Category: Neurology Authors: Tags: Original article Source Type: research
Positive trial results for an oral drug to treat spinal muscular atrophy (SMA) are bringing Roche one step closer to breaking into the high-cost treatment area.
Source: PharmaManufacturing.com - Category: Pharmaceuticals Source Type: news
Roche's bid to rival Biogen and Novartis in treating spinal muscular atrophy (SMA) got a lift on Monday when the Swiss drugmaker said its drug risdiplam improved motor function in a key study.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Roche's bid to rival Biogen and Novartis in treating spinal muscular atrophy (SMA) got a lift on Monday when the Swiss drugmaker said its drug risdiplam improved motor function of patients in a key study.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Roche today announced positive data from the pivotal Part 2 of SUNFISH, a study evaluating risdiplam in people aged 2-25 years with Type 2 or 3 spinal muscular atrophy (SMA).
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
(IOS Press) A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more. These findings prove the efficacy of Nusinersen beyond types and age groups, paving the way for adult treatment.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
South San Francisco, CA -- November 10, 2019 -- Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced positive data from the pivotal Part 2 of the SUNFISH study evaluating risdiplam in people aged 2-25 years with Type...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
More News: Brain | Genetics | Medical Ethics | Neurology | Spinal Muscular Atrophy | Study