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About 7,190 results

ALLMedicine™ Spinal Muscular Atrophy Center

Research & Reviews  3,395 results

A Systematic Review of Procedural Complications from Transforaminal Lumbar Puncture for...
https://doi.org/10.3174/ajnr.A7009
AJNR. American Journal of Neuroradiology; Grayev A, Schoepp M et. al.

Feb 26th, 2021 - Spinal muscular atrophy is a progressive neurodegenerative disorder that can be treated with intrathecal antisense oligonucleotide therapy (nusinersen). However, administration is often complicated by posterior spinal fusion and neuromuscular scol...

Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating S...
https://doi.org/10.1007/s13311-020-01004-3 10.1111/j.1365-2990.2008.00950.x 10.1097/NEN.0000000000000078 10.1007/s00415-019-09646-w 10.1111/dmcn.14027 10.1016/S1474-4422(20)30037-5 10.1124/jpet.114.222224 10.1002/mus.26017 10.1016/j.nmd.2007.05.009 10.1002/mus.24153 10.1212/WNL.0000000000006241
Neurotherapeutics : the Journal of the American Society F... Rudnicki SA, Andrews JA et. al.

Feb 24th, 2021 - This phase 2, double-blind, placebo-controlled, hypothesis-generating study evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients with spinal muscular atrophy (SMA). Patients ≥ 12 years of age with type ...

Risdiplam in Type 1 Spinal Muscular Atrophy.
https://doi.org/10.1056/NEJMoa2009965
The New England Journal of Medicine; Baranello G, Darras BT et. al.

Feb 24th, 2021 - Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA...

Skin necrosis in spinal muscular atrophy: Case report and review of the literature.
https://doi.org/10.1111/pde.14538
Pediatric Dermatology; Weissman AS, Kennedy KR et. al.

Feb 23rd, 2021 - Spinal muscular atrophy (SMA) type 0 is the most severe phenotype of SMA and is characterized by hypotonia, muscle weakness, and respiratory distress. Cutaneous necrosis, first described in an SMA mouse model, can occur in patients with severe dis...

"I have SMA, SMA doesn't have me": a qualitative snapshot into the challenges, successe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898731
Orphanet Journal of Rare Diseases; Mazzella A, Curry M et. al.

Feb 23rd, 2021 - With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this ...

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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  3,565 results

A Systematic Review of Procedural Complications from Transforaminal Lumbar Puncture for...
https://doi.org/10.3174/ajnr.A7009
AJNR. American Journal of Neuroradiology; Grayev A, Schoepp M et. al.

Feb 26th, 2021 - Spinal muscular atrophy is a progressive neurodegenerative disorder that can be treated with intrathecal antisense oligonucleotide therapy (nusinersen). However, administration is often complicated by posterior spinal fusion and neuromuscular scol...

Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating S...
https://doi.org/10.1007/s13311-020-01004-3 10.1111/j.1365-2990.2008.00950.x 10.1097/NEN.0000000000000078 10.1007/s00415-019-09646-w 10.1111/dmcn.14027 10.1016/S1474-4422(20)30037-5 10.1124/jpet.114.222224 10.1002/mus.26017 10.1016/j.nmd.2007.05.009 10.1002/mus.24153 10.1212/WNL.0000000000006241
Neurotherapeutics : the Journal of the American Society F... Rudnicki SA, Andrews JA et. al.

Feb 24th, 2021 - This phase 2, double-blind, placebo-controlled, hypothesis-generating study evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients with spinal muscular atrophy (SMA). Patients ≥ 12 years of age with type ...

Risdiplam in Type 1 Spinal Muscular Atrophy.
https://doi.org/10.1056/NEJMoa2009965
The New England Journal of Medicine; Baranello G, Darras BT et. al.

Feb 24th, 2021 - Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA...

Skin necrosis in spinal muscular atrophy: Case report and review of the literature.
https://doi.org/10.1111/pde.14538
Pediatric Dermatology; Weissman AS, Kennedy KR et. al.

Feb 23rd, 2021 - Spinal muscular atrophy (SMA) type 0 is the most severe phenotype of SMA and is characterized by hypotonia, muscle weakness, and respiratory distress. Cutaneous necrosis, first described in an SMA mouse model, can occur in patients with severe dis...

"I have SMA, SMA doesn't have me": a qualitative snapshot into the challenges, successe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898731
Orphanet Journal of Rare Diseases; Mazzella A, Curry M et. al.

Feb 23rd, 2021 - With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this ...

see more →

News  193 results

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...

Fast Five Quiz: Spinal Muscular Atrophy Clinical Presentation
https://reference.medscape.com/viewarticle/944574

Jan 31st, 2021 - Spinal muscular atrophy (SMA) consists of a group of autosomal-recessive disorders characterized by progressive weakness of the lower motor neurons. Estimates suggest 1 in 6000 to 1 in 10,000 individuals are affected, making SMA the second most co...

Fast Five Quiz: Spinal Muscular Atrophy
https://reference.medscape.com/viewarticle/943823

Jan 13th, 2021 - Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that damage and kill motor neurons in the brain and spinal cord. Motor neurons control movement in the arms, legs, face, chest, throat and tongue, in addition to skeletal muscl...

Long-Term Benefits From Nusinersen for Presymptomatic SMA
https://www.staging.medscape.com/viewarticle/939686

Oct 22nd, 2020 - Nusinersen provides continued, long-term benefits to infants with spinal muscular atrophy (SMA) who begin treatment before symptom onset, according to an analysis presented at the 2020 CNS-ICNA Conjoint Meeting, held virtually this year. "Children...

Long-Term Benefits From Nusinersen for Presymptomatic SMA
https://www.medscape.com/viewarticle/939686

Oct 22nd, 2020 - Nusinersen provides continued, long-term benefits to infants with spinal muscular atrophy (SMA) who begin treatment before symptom onset, according to an analysis presented at the 2020 CNS-ICNA Conjoint Meeting, held virtually this year. "Children...

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Patient Education  7 results see all →