Neurologists

Skills

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June 30, 2018

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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)
- ZOLGENSMA (AVXS-101)
  - Administering Zolgensma
  - Zolgensma: Caregiver Counseling
- EVRYSDI (Risdiplam)
- Treatments in Development
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.