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Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

by BNS Staff | Jan 28, 2021 | News

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical...
Spinraza Shown to Preserve Respiratory Muscle Strength in SMA Type 2 Patients

Spinraza Shown to Preserve Respiratory Muscle Strength in SMA Type 2 Patients

by BNS Staff | Jan 26, 2021 | Just Published, News, Pulmonologist News, slider

Spinraza (nusinersen) effectively preserves respiratory muscle strength in addition to motor function in children with spinal muscular atrophy (SMA) type 2, according to a real-life, small study in France. Larger studies are needed to confirm these findings, and to...
Measuring Neurological Impact of Polio Proves Useful in SMA, Study Reports

Measuring Neurological Impact of Polio Proves Useful in SMA, Study Reports

by BNS Staff | Jan 14, 2021 | News

Researchers have found changes in the electrical activity between the brain and muscles in adults who had childhood polio — an infection that affects the same motor neurons as those impacted in people with spinal muscular atrophy (SMA), a study reported.  The...
Paramedian Injection Approach Found to Ease Spinraza Administration

Paramedian Injection Approach Found to Ease Spinraza Administration

by BNS Staff | Jan 7, 2021 | News, slider

Administering Spinraza (nusinersen) via a particular method of injection, called the paramedian approach, can shorten procedure times and reduce the occurrence of adverse events for people with spinal muscular atrophy (SMA), a small study suggests. This method may...
Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

by BNS Staff | Dec 22, 2020 | slider

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with...
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SMA – Core Topics

  • What is SMA?
  • Types of SMA
    • Spinal Muscular Atrophy Type 0
    • Spinal Muscular Atrophy Type 1
      • SMA Type 1 Subtypes
    • Spinal Muscular Atrophy Type 2
      • SMA Type 2 Subtypes
    • Spinal Muscular Atrophy Type 3
      • SMA Type 3 Subtypes
    • Spinal Muscular Atrophy Type 4
    • Rare Forms of SMA
    • SMN1-negative variants resembling Adult Onset SMA
    • SMN1-negative variants resembling Infantile Onset SMA
    • SMN1-negative variants resembling Childhood Onset SMA
    • Pre-Symptomatic Intervention 
  • Genetics and Epidemiology
    • Genetic Counseling
    • Genetic Screening
    • The Role of MicroRNA
    • MUNI Biomarker for SMA
  • Signs and Symptoms
    • Pain
    • Weakness and Hypotonia
  • Comorbid Conditions
    • Abnormal Fatty Acid Oxidation in SMA
    • Cardiac Disease
    • Enuresis and Urinary Incontinence
    • Eosinophilic Oesophagitis in SMA
    • Pancreatic Dysfunction
    • SMA Associated with Progressive Myoclonic Epilepsy
    • Sleep Disorders in SMA
  • Diagnosis
    • Biomarkers
    • Electromyography
    • Muscle Biopsy
    • MRI
  • Differential Diagnosis
    • Prenatal/Neonatal Onset
    • Childhood Onset
    • Adult Onset
  • Disease-Modifying Therapy
    • SPINRAZA (nusinersen)
      • Administering Nusinersen
      • Alternate Nusinersen Administration Strategies
      • How to Administer Nusinersen in Adolescents 
      • Nusinersen: What is Still Unclear
      • Patient and Parent Perspectives on Nusinersen
    • ZOLGENSMA (AVXS-101)
      • Administering Zolgensma
      • Zolgensma: Caregiver Counseling
    • EVRYSDI (Risdiplam)
    • Treatments in Development
      • Branaplam
      • Olesoxime
      • Reldesemtiv
      • Salbutamol
      • Valproic Acid
      • Combined Drug Therapy
      • Disease Modifying Therapies in Spinal Muscular Atrophy: Preclinical Products
  • Testing
    • Meaningful Change in SMA
  • Orthopedic Surgery
    • Chest Deformity, Hip Instability, Contractures, and Fractures
    • Contractures
    • Fractures
    • Scoliosis
    • Scoliosis Surgery
  • Discussing Clinical Trials
  • Respiratory Care
    • Airway Clearance
    • Breathing Difficulty
    • In the Acutely Ill Child
    • In the Well Child
    • Intubation and Extubation 
    • Oxygenation and Breathing 
    • Practical Guidance for Breathing Problems
    • Perioperative Considerations
    • Retained Secretions and Aspiration
  • Physical Therapy
  • Home Modifications
  • Feeding, GERD, and GI Issues
    • Gastrointestinal Access
    • GERD
    • In SMA Patients Who Can Sit Up
    • In SMA Patients Who Cannot Sit Up
  • Delayed Growth
  • School and Educational Concerns
    • Awareness and Attitudes
  • Maximizing Quality of Life
  • Assistive Devices
    • Oxygenation and Breathing 
    • Mobility Devices
    • Braces
    • Feeding
  • Speech Therapy
  • Occupational Therapy
  • Nutrition
    • Assessment of Growth and Growth Delay
    • Chewing and Swallowing Problems
    • Fluids and Hydration
    • Nutrition and Supplementation
  • Medical Transportation and Hospitalization
    • Hospitalization for SMA Patients
  • Pain Management
  • Patient & Caregiver Concerns
    • Caregiver Support
    • Effects on Home, School, and Leisure
    • Maximizing Quality of Life
    • Psychological Support
    • What Living with SMA is Like: A Qualitative Research Perspective
  • Prognosis
  • Palliative Care

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SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.