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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
HCP — SMA News Today
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