DISEASE SCANNER
Global Incurable Diseases Tracker
Spinal Muscular Atrophy (SMA)
An autosomal recessive motor neuron disease caused by SMN1 gene mutations affecting survival motor neuron protein. Progressive muscle weakness and atrophy. SMA type 1 (infantile) is most severe; SMA type 4 (adult-onset) is mildest.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Transformed by gene therapy and SMN2 modulators. Type 1: previously death by age 2, now many survive with treatment. Type 2: improved survival and function. Type 3: near normal lifespan with treatment.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Disease-modifying therapies: Nusinersen (SMN2 splicing modifier), Onasemnogene abeparvovec (gene replacement), Risdiplam (oral SMN2 modifier). Newborn screening allows presymptomatic treatment. Transformed from fatal to treatable disease.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.