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About 7,330 results

ALLMedicine™ Spinal Muscular Atrophy Center

Research & Reviews  3,457 results

Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy:...
https://doi.org/10.1016/j.nmd.2021.02.019
Neuromuscular Disorders : NMD; Mendonça RH, Machado LMS et. al.

Apr 7th, 2021 - Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. The motor unit number index (MUNIX) is a biomarker used to assess loss of motor units in later-onset SMA patients. Twenty SMA...

Novel genome-editing-based approaches to treat motor neuron diseases: promises and chal...
https://doi.org/10.1016/j.ymthe.2021.04.003
Molecular Therapy : the Journal of the American Society O... Miccio A, Antoniou P et. al.

Apr 6th, 2021 - Motor neuron diseases are untreatable with common pharmacological approaches. Spinal Muscular Atrophy (SMA) is caused by SMN1 gene mutations leading to lowered SMN expression. Symptoms are alleviated in infants with a higher copy number of the SMN...

Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the...
https://doi.org/10.1044/2021_AJSLP-20-00217
American Journal of Speech-language Pathology; McGrattan KE, Graham RJ et. al.

Apr 6th, 2021 - Purpose The aim of this study was to provide clinicians with an overview of literature relating to dysphagia in spinal muscular atrophy (SMA) to guide assessment and treatment. Method In this clinical focus article, we review literature published ...

Multi-site Evaluation and Validation of a Sensitive Diagnostic and Screening System for...
https://doi.org/10.1016/j.jmoldx.2021.03.004
The Journal of Molecular Diagnostics : JMD; Milligan JN, Larson JL et. al.

Apr 2nd, 2021 - Spinal muscular atrophy (SMA) is a severe autosomal recessive disease caused by disruptions in the SMN1 gene. The nearly identical SMN2 gene copy number is associated with disease severity. SMN1 duplication markers such as c.*3+80T>G and c.*211_*2...

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Guidelines  23 results

Spinal muscular atrophy - Genetics Home Reference - NIH
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy

Aug 5th, 2019 - Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. Th...

The Nature and Prevalence of Spinal Muscular Atrophy
https://www.neurologylive.com/peer-exchange/understanding-spinal-muscular-atrophy/the-nature-and-prevalence-of-spinal-muscular-atrophy

May 28th, 2019 - A panel of experts begin their discussion by reviewing the etiology and epidemiology of spinal muscular atrophy (SMA).

AveXis receives FDA approval for Zolgensma®, the first and only gene therapy for pediatric patients with spinal muscular atrophy (SMA)
https://www.avexis.com/content/pdf/press_release.pdf

May 23rd, 2019 - AveXis, a Novartis company, today announced the US Food and Drug Administration (FDA) has approved Zolgensma® (onasemnogene abeparvovec-xioi) for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with ...

Spinal Muscular Atrophy - NORD (National Organization for Rare Disorders)
https://rarediseases.org/rare-diseases/spinal-muscular-atrophy/

Dec 12th, 2018 - Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells in the spinal cord called motor neurons or anterior horn cells. Motor neurons receive the nerve impulses transmitted from the brain to t...

Evidence in focus: Nusinersen use in spinalmuscular atrophy
http://n.neurology.org/content/neurology/early/2018/10/12/WNL.0000000000006502.full.pdf
Michelson, D.

Oct 11th, 2018 - Objective: To identify the level of evidence for use of nusinersen to treat spinal muscular atrophy (SMA)and review clinical considerations regarding use Keywords: Neurology, spinal muscular atrophy, nusinersen, musculoskeletal diseases, spinal mu.

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Drugs  7 results see all →

Clinicaltrials.gov  3,635 results

Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy:...
https://doi.org/10.1016/j.nmd.2021.02.019
Neuromuscular Disorders : NMD; Mendonça RH, Machado LMS et. al.

Apr 7th, 2021 - Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. The motor unit number index (MUNIX) is a biomarker used to assess loss of motor units in later-onset SMA patients. Twenty SMA...

Novel genome-editing-based approaches to treat motor neuron diseases: promises and chal...
https://doi.org/10.1016/j.ymthe.2021.04.003
Molecular Therapy : the Journal of the American Society O... Miccio A, Antoniou P et. al.

Apr 6th, 2021 - Motor neuron diseases are untreatable with common pharmacological approaches. Spinal Muscular Atrophy (SMA) is caused by SMN1 gene mutations leading to lowered SMN expression. Symptoms are alleviated in infants with a higher copy number of the SMN...

Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the...
https://doi.org/10.1044/2021_AJSLP-20-00217
American Journal of Speech-language Pathology; McGrattan KE, Graham RJ et. al.

Apr 6th, 2021 - Purpose The aim of this study was to provide clinicians with an overview of literature relating to dysphagia in spinal muscular atrophy (SMA) to guide assessment and treatment. Method In this clinical focus article, we review literature published ...

Multi-site Evaluation and Validation of a Sensitive Diagnostic and Screening System for...
https://doi.org/10.1016/j.jmoldx.2021.03.004
The Journal of Molecular Diagnostics : JMD; Milligan JN, Larson JL et. al.

Apr 2nd, 2021 - Spinal muscular atrophy (SMA) is a severe autosomal recessive disease caused by disruptions in the SMN1 gene. The nearly identical SMN2 gene copy number is associated with disease severity. SMN1 duplication markers such as c.*3+80T>G and c.*211_*2...

see more →

News  201 results

Spinal Muscular Atrophy Drug Approved in Europe
https://www.medscape.com/viewarticle/948377

Mar 29th, 2021 - The European Commission (EC) has granted marketing clearance for risdiplam (Evrysdi, PTC Therapeutics), the first oral treatment for patients with certain types of spinal muscular atrophy (SMA). Risdiplam is indicated for the treatment of 5q SMA i...

NICE Approves Life-Changing Gene Therapy for Spinal Muscular Atrophy
https://www.medscape.com/viewarticle/947154

Mar 9th, 2021 - A new and potentially curative one-off gene therapy for babies with the rare genetic disorder spinal muscular atrophy (SMA) is set to become the most expensive treatment ever approved by the National Institute for Health and Care Excellence (NICE)...

Risdiplam Promising for Spinal Muscular Atrophy
https://www.medscape.com/viewarticle/947139

Mar 8th, 2021 - Infants with type 1 spinal muscular atrophy (SMA) showed promising signs, including an increased expression of functional survival motor neuron (SMN) protein in the blood, after 1 year of treatment with oral risdiplam (Evrysdi, Genentech), accordi...

First Oral SMA Treatment Gets EMA Panel Thumbs Up
https://www.medscape.com/viewarticle/946619

Feb 28th, 2021 - The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has recommended marketing authorization for risdiplam (Evrysdi), the first treatment that can be given orally to patients with certain types of spinal...

Fast Five Quiz: Spinal Muscular Atrophy in Adults
https://reference.medscape.com/viewarticle/944475

Jan 31st, 2021 - Spinal muscular atrophy (SMA) is a neurodegenerative disease that confers a substantial and multifaceted burden on affected patients. Although early-onset disease is most common, milder phenotype variants can be diagnosed in adulthood. Estimates s...

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Patient Education  7 results see all →