關於 spinal muscular atrophy ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Spinal Muscular Atrophy (SMA) | Boston Children's Hospital

Spinal muscular atrophy (SMA) is a rare hereditary genetic condition in which muscles throughout the body are weakened because nerve cells in the spinal ...

#12. Spinal Muscular Atrophy (SMA) (for Parents) - Kids Health

Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). SMA can affect a child's ability to ...

#13. Spinal muscular atrophy - UpToDate

This topic will review clinical aspects of spinal muscular atrophy (SMA), with a focus on survival motor neuron 1 (SMN1) gene-related SMA.

#14. About Spinal Muscular Atrophy - Cure SMA

Spinal muscular atrophy (SMA) is caus ed by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a ...

#15. Spinal muscular atrophy (SMA) - Better Health Channel

Spinal muscular atrophy (SMA) is a genetic condition. It affects the nerves that control muscle movement (the motor neurons).

#16. 脊髓性肌肉萎縮症-Spinal Muscular Atophy - 柯滄銘婦產科診所

脊髓性肌肉萎縮症(spinal muscular atrophy, 簡稱SMA) 屬於體染色體隱性遺傳疾病，是因脊髓的前角運動神經元漸進性退化，造成肌肉逐漸軟弱無力、萎縮的一種疾病，但 ...

#17. About Spinal Muscular Atrophy

What is spinal muscular atrophy? Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and ...

#18. 脊髓性肌肉萎縮症 - 財團法人罕見疾病基金會

疾病名稱： 脊髓性肌肉萎縮症 ( Spinal Muscular Atrophy, SMA ). 現階段政府公告之罕見疾病： 有. 是否已發行該疾病之宣導單張： 有. ICD-9-CM診斷代碼：335.10

#19. New gene therapy to treat spinal muscular atrophy (corrected)

There are currently limited treatment options for children with SMA in the EU. Patients also receive physical aids to support muscular functions ...

#20. Single-Dose Gene-Replacement Therapy for Spinal ...

BackgroundSpinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infancy that results ...

#21. Spinal Muscular Atrophy (SMA) | Johns Hopkins Medicine

Spinal muscular atrophy (SMA) is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement. · Because the muscles cannot respond ...

#22. Spinal Muscular Atrophy (SMA) | Novartis

Spinal Muscular Atrophy (SMA). SMA is a rare and devastating genetic disease caused by a lack of a functional survival motor neuron 1 (SMN1) gene, ...

#23. 脊髓性肌肉萎縮症（spinal muscular atrophy）之簡介與產前檢查

脊髓性肌肉萎縮症（spinal muscular atrophy, 簡稱SMA）被認為是國內常見的體染色體隱性遺傳疾病之一。脊髓性肌肉萎縮症是因為SMN基因缺失造成脊髓前角運動神經元退化 ...

#24. Spinal Muscular Atrophy | Cedars-Sinai

Spinal muscular atrophy is a group of inherited diseases that affect the muscles responsible for voluntary movement in the body. This disease occurs when ...

#25. Spinal Muscular Atrophy - Nationwide Children's Hospital

Spinal muscular atrophies (SMA) are a group of genetic (passed down by parents) diseases that affect motor neurons (nerve cells) in the spinal cord, ...

#26. What is Spinal Muscular Atrophy (SMA)? | SMN1 & SMN2 Genes

Learn about the biology, genetics, and causes of spinal muscular atrophy (SMA), and how the SMN1 gene, SMN2 gene, and SMN protein affect SMA.

#27. Spinal Muscular Atrophy : CONTINUUM

Spinal muscular atrophy (SMA) is an autosomal recessive disease of the lower motor neurons characterized by progressive weakness and muscle atrophy.

#28. Spinal Muscular Atrophy: A Timely Review - JAMA Network

The term spinal muscular atrophy (SMA) refers to a group of genetic disorders characterized by degeneration of anterior horn cells and resultant ...

#29. Spinal Muscular Atrophy - AANEM

Spinal muscular atrophy (SMA) is a disorder that causes weakness and wasting of muscles. The condition may be acquired or hereditary. The hereditary SMA ...

#30. Proximal spinal muscular atrophy - Orphanet

Disease definition. Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from ...

#31. FDA Approves Oral Treatment for Spinal Muscular Atrophy

The FDA has approved Evrysdi (risdiplam) to treat patients two months and older with spinal muscular atrophy, a rare and often fatal genetic ...

#32. Carrier Testing for Spinal Muscular Atrophy FAQ | UCSF Health

Spinal muscular atrophy is a genetic disease that results in progressive muscle weakness and paralysis. Learn more and find answers to frequently asked ...

#33. Kids Health Information : Spinal muscular atrophy (SMA) - The ...

Spinal muscular atrophy (SMA) is a rare genetic disorder that affects the part of the nervous system that controls muscle movement. SMA affects the motor ...

#34. 253300 - SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the ...

#35. Spinal Muscular Atrophy in Children

Spinal muscular atrophy (SMA) is a disease of the nerves and muscles caused by certain genes. It causes muscle wasting and weakness.

#36. Spinal Muscular Atrophy | ScienceDirect

Spinal Muscular Atrophy : Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle ...

#37. Spinal Muscular Atrophy | Stanford Health Care

Spinal muscular atrophy, also called SMA, is a genetic disorder that causes progressive muscle decline (atrophy), weakness and extreme fatigue. In most cases, a ...

#38. Gene therapy for spinal muscular atrophy: the Qatari experience

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder and the most common fatal inherited disease of infancy resulting ...

#39. Spinal Muscular Atrophy (SMA) - Children's Hospital of ...

What is spinal muscular atrophy (SMA)?. Spinal muscular atrophy (SMA) is a genetic disease that affects the spinal cord and nerves, resulting in muscle ...

#40. Spinal muscular atrophy (SMA) - UCSF Benioff Children's ...

Spinal muscular atrophy (SMA) is a group of genetic diseases that affects the part of the nervous system that controls voluntary muscle movements, ...

#41. Carrier Screening for Spinal Muscular Atrophy (SMA) | ACOG

My family member has spinal muscular atrophy. Does this increase my risk of having a child with the disorder? Yes. SMA is an inherited disorder that runs in ...

#42. Spinal Muscular Atrophy (SMA) - Physiopedia

Spinal Muscular Atrophy (SMA) is a severe genetic condition which requires precise diagnosis and extensive physiotherapy treatment in order to protect the ...

#43. Spinal Muscular Atrophy (SMA) - Lurie Children's Hospital

​​​​​Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls our ability to move our muscles voluntarily.

#44. Gene therapy for spinal muscular atrophy: hope and caution

In the past decade major advances have been made in the treatment of spinal muscular atrophy, a devastating, progressive motor neuron ...

#45. Spinal Muscular Atrophy - TREAT-NMD

Spinal Muscular Atrophy (SMA) is an inherited neuromuscular condition that affects the nerve cells (motor neurons) in an area of the spinal cord called the ...

#46. Spinal Muscular Atrophy | Baby's First Test | Newborn Screening

In people affected by SMA, the loss of motor neurons leads to progressive muscle weakness and atrophy (wasting). There are four primary forms of SMA which are ...

#47. NHS deal on spinal muscular atrophy at home treatment

Risdiplam will be used to treat hundreds of patients a year with Spinal Muscular Atrophy (SMA), a rare and often fatal genetic disease that ...

#48. Spinal Muscular Atrophy: Classification, Diagnosis ...

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by the loss of motor neurons from the anterior horn of the spinal ...

#49. The Need for SMN-Independent Treatments of Spinal ...

Spinal Muscular Atrophy (SMA) is a monogenic, ...

#50. Spinal Muscular Atrophy - Biogen

Spinal muscular atrophy (SMA) is a genetic, progressive, and often terminal rare disease that affects an individual's ability to walk, eat, and, ultimately, ...

#51. What Is Spinal Muscular Atrophy? - SMA News Today

Spinal muscular atrophy is a neurodegenerative disease characterized by progressive muscle weakness caused by the loss of motor neurons.

#52. What Is 5q Spinal Muscular Atrophy?

SMA Type 1 is the most severe form of SMA. Symptoms of muscle weakness usually begin between 0 and 6 months. Infants are unable to sit without ...

#53. Spinal Muscular Atrophy - Symptoms and Causes - Penn ...

Spinal muscular atrophy (SMA) is a group of disorders of the motor neurons (motor cells). These disorders are passed down through families (inherited) and ...

#54. a motor neuron disorder or a multi‐organ disease? - Wiley ...

Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disorder that is the leading genetic cause of infantile death.

#55. Spinal muscular atrophy–type I - Archives of Disease in ...

Those patients with other forms of SMA have later onset of symptoms, experience a slower progression of muscle weakness, and respiratory symptoms may not arise ...

#56. About SMA

About SMA: Overview About SMA: Overview Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The.

#57. Spinal Muscular Atrophy - AJMC

Reducing Disease Burden Through Early Diagnosis and Treatment of Spinal Muscular Atrophy (SMA) · More Research Needed on SMA-Associated Costs, Resource Use.

#58. Spinal Muscular Atrophies (SMAs) - Merck Manuals

Spinal muscular atrophy type 4 first appears during adulthood, usually between the ages of 30 and 60 years. Muscles, mainly in the hips, thighs, and shoulders, ...

#59. Spinal Muscular Atrophy - ICER

nusinersen (Spinraza®, Biogen). Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disease. In its most common form, Type I SMA (~60% of cases) ...

#60. Spinal Muscular Atrophy | CS Mott Children's Hospital

SMA is generally characterized by muscle atrophy and weakness. The degree of weakness and the severity of disease is related to the number of copies of the SMN2 ...

#61. Understanding spinal muscular atrophy - Mayo Clinic

Learn about spinal muscular atrophy, managing symptoms and available treatment options.

#62. Nusinersen in later-onset spinal muscular atrophy | Neurology

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive muscular atrophy and weakness. ... Infants with SMA type I ...

#63. Two breakthrough gene-targeted treatments for spinal ... - JCI

The motor neuron disease spinal muscular atrophy (SMA) is caused by recessive, loss-of-function mutations of the survival motor neuron 1 ...

#64. Spinal Muscular Atrophy (SMA) | Northwestern Medicine

At Northwestern Memorial Hospital, we have extensive experience diagnosing and treating spinal muscular atrophy (SMA). Northwestern Memorial Hospital is ...

#65. Physical Therapy Guide to Spinal Muscular Atrophy | Choose PT

Spinal muscular atrophy is a common, inherited neuromuscular disease. It causes low muscle tone (hypotonia) and progressive muscle weakness and wasting ...

#66. Spinal Muscular Atrophy | Allegheny Health Network

People choose AHN Neuroscience Institute for myopathy care because of our expertise and experience in providing a precise diagnosis and the most effective ...

#67. NICE draft guidance recommends new treatment for spinal ...

SMA is a progressive condition affecting the nerves in the spinal cord which control movement. This leads to muscle weakness, progressive loss ...

#68. Newborn Screening for Spinal Muscular Atrophy - HRSA

SMA is a rare genetic disorder. Studies of patients with symptoms suggest that about 1 out of every 11,000 people has SMA. People with SMA have a change in the ...

#69. Spinal muscular atrophy Information | Mount Sinai - New York

Spinal muscular atrophy (SMA) is a group of disorders of the motor neurons (motor cells). These disorders are passed down through families (inherited) and ...

#70. Advances in Treatment of Spinal Muscular Atrophy - IOS Press

Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle ...

#71. Spinal muscular atrophy: From approved therapies to future ...

Spinal muscular atrophy (SMA), a childhood-onset motor neuron disease, has historically been the most frequent genetic cause of.

#72. Spinal Muscular Atrophy – An Overview | MD Australia

Spinal muscular atrophy (SMA) is a genetic condition which affects the nerves that control muscle movement– the motor neurons.

#73. What Is Spinal Muscular Atrophy (SMA)? - Zolgensma

SMA is a progressive, rare genetic disease that is caused by the survival motor neuron 1 (SMN1) gene that is missing or not working properly. Learn more about ...

#74. Overview Spinal muscular atrophy (SMA) - Muscular ...

Spinal Muscular Atrophy (SMA) is a rare, genetically inherited neuromuscular condition. Printer-friendly version. It causes progressive muscle weakness and ...

#75. Zolgensma® meaningfully improves spinal muscular atrophy ...

Children treated with Zolgensma® gene therapy achieved motor milestones never observed in the natural history of spinal muscular atrophy.

#76. Twenty-Five Years of Spinal Muscular Atrophy Research

Homozygous deletions or, rarely, subtle mutations of SMN1 cause SMA, and the copy number of the nearly identical copy gene SMN2 inversely correlates with ...

#77. Spinraza in Adult Spinal Muscular Atrophy (SAS) - Clinical Trials

Subjects with SMA II/III that are 18 years to 70 years of age who are planning to initiate treatment with SPINRAZA® (nusinersen) as part of their clinical care ...

#78. Roche's Evrysdi continues to improve motor function ... - Roche

Roche's Evrysdi continues to improve motor function and survival in babies with Type 1 Spinal Muscular Atrophy (SMA) · More than twice as many ...

#79. Oral drug for spinal muscular atrophy to be available on NHS ...

SMA is a progressive neuromuscular condition affecting the nerves in the spinal cord controlling movement and can cause paralysis, ...

#80. Spinal Muscular Atrophy in Babies: What You Should Know

Spinal muscular atrophy (SMA) is a rare genetic disorder that weakens the muscles used for movement. In most cases, the symptoms are present ...

#81. Spinal muscular atrophy - Christopher Reeve Foundation

Spinal muscular atrophy (SMA) refers to a group of inherited neuromuscular diseases that affect the nerve cells (motor neurons) and the control of voluntary ...

#82. Spinal Muscular Atrophy - St. Louis Children's Hospital

Spinal muscular atrophy is a genetic disease that affects the spinal cord and nerves, resulting in muscle wasting and weakness.

#83. Dysphagia Phenotypes in Spinal Muscular Atrophy - ASHAWire

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder that occurs in one out of every 11,000 live births (Sugarman et al., ...

#84. Spinal Muscular Atrophy - Pediatrics - Orthobullets

Spinal Muscular Atrophy is a common genetic disease caused by an autosomal recessive mutation in the survival motor neuron gene.

#85. Synaptic Defects in the Spinal and Neuromuscular Circuitry in ...

Spinal muscular atrophy (SMA) is a major genetic cause of death in childhood characterized by marked muscle weakness.

#86. Life-saving Spinal Muscular Atrophy medicine to be made ...

... a life-saving and life-changing medicine will soon be expanded for Australian children and infants with Spinal Muscular Atrophy (SMA), ...

#87. Carrier Screening for Spinal Muscular Atrophy (SMA) | VCGS

Note: There is no out-of-pocket cost for partners of individuals identified to be an SMA carrier via this test. Did you know that spinal muscular atrophy ...

#88. Spinal muscular atrophy - causes, symptoms, diagnosis ...

What is spinal muscular atrophy (SMA)? SMA's an autosomal recessive disorder that causes alpha motor neurons in the spinal cord to die, ...

#89. Spinal Muscular Atrophy (SMA) in Maine Coon Cats

Spinal muscular atrophy (SMA) is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the ...

#90. Spinal muscular atrophy (SMA) - Healthdirect Australia

Spinal muscular atrophy (SMA) is a rare condition that causes muscles to gradually become weak and waste away. Although there is no cure for SMA, ...

#91. Inherited Paediatric Motor Neuron Disorders: Beyond Spinal ...

Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of ...

#92. Spinal Muscular Atrophy: Past, Present, and Future

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival motor neuron ...

#93. Adults Living with SMA - Genentech

Spinal Muscular Atrophy (SMA) is a genetic disease that affects nerve cells in the spinal cord that control muscles, as well as other cells ...

#94. Spinal Muscular Atrophy: Mutations, Testing, and Clinical ...

Abstract: Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior ...

#95. POMS: DI 23022.330 - Spinal Muscular Atrophy (SMA) - Types ...

Spinal Muscular Atrophy (SMA) of all types belongs to a group of hereditary diseases that cause weakness and wasting of the voluntary ...

#96. Spinal Muscular Atrophy | ASGCT - American Society of Gene ...

Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects the motor nerve cells in the spinal cord and is the leading genetic ...

#97. Spinal Muscular Atrophy (SMA) - Nemours Children's Health

Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). The disease often starts in the ...

#98. Spinal muscular atrophy (SMA) | MedLink Neurology

Spinal muscular atrophy (SMA) is a neurodegenerative disorder primarily affecting the anterior horn cells. Signs of motor neuron disease such as muscle…

#99. I have spinal muscular atrophy. Critics of the $2 million ...

Zolgensma, approved for children under 2, is the only one-dose treatment option for any category of SMA patients and has been highly effective ...