Diagnosis

1. Clinical examination: Based on symptoms and motor function assessment.
2. Genetic testing: Confirms the diagnosis by identifying mutations in the SMN1 gene.
3. Electromyography (EMG): Assesses the health of muscles and the nerve cells that control them.
4. Muscle biopsy: Sometimes used if genetic testing is inconclusive. 
    

Treatment and Management and Medications: 

1. Nusinersen (Spinraza): An antisense oligonucleotide that increases production of the SMN protein by modifying SMN2 gene splicing.
2. Onasemnogene abeparvovec-xioi (Zolgensma): A gene therapy that delivers a functional copy of the SMN1 gene.
3. Risdiplam (Evrysdi): An oral medication that increases SMN protein levels.
4. Physical therapy: Helps maintain muscle strength, flexibility, and function.
5. Respiratory support: Includes non-invasive ventilation, cough assist devices, and respiratory physiotherapy.
6. Nutritional support: Ensures adequate nutrition and addresses feeding difficulties, sometimes requiring feeding tubes.
7. Orthopedic interventions: Bracing, surgery for scoliosis, and other orthopedic procedures to improve mobility and comfort.
8. Assistive devices: Wheelchairs, standing frames, and other mobility aids. 

New Therapies: Ongoing research into additional gene therapies, small molecule drugs, and other innovative treatments to further improve outcomes.

Managing Spinal Muscular Atrophy in children requires a comprehensive and multidisciplinary approach. Advances in medical research and treatment options have significantly improved the prognosis and quality of life for many affected children, offering hope for even better outcomes in the future.

Image credit: Content credentials Generated with AI ∙ July 2, 2024 at 6:45 AM