A clear perspective on diagnosis, genetic mechanism, and modern treatment options.
Fighting for Treatment in Moldova
Our primary mission is to ensure every SMA patient in Moldova has access to life-saving therapies. We work actively with authorities to include them in the state-compensated list.
Genetic Mechanism: Understanding the Cause
Spinal Muscular Atrophy (SMA) is a rare genetic condition leading to the degeneration of motor neurons. Without them, signals don't reach muscles, causing progressive atrophy.
SMN1 Gene
The primary gene responsible for producing the survival motor neuron protein. Its absence triggers the disease.
SMN2 Gene
Acts as a backup gene, producing only a fraction of the necessary protein. The number of SMN2 copies determines disease severity.
1 in 40 people is a healthy carrier of the SMA gene.
Classification of SMA Types
Early identification of the SMA type helps establish the most effective intervention plan.
Type 1 • Werdnig-Hoffmann
Most severe form. Appears before 6 months. Without treatment, life expectancy is severely reduced.
Type 2 • Intermediate
Appears between 6-18 months. Children can sit but need support for mobility and breathing.
Type 3 • Kugelberg-Welander
Symptoms appear after 18 months. Patients walk independently but may face progressive motor difficulties.
Type 4 • Adult
Adult onset. Slow progression with minimal impact on life expectancy, but requiring monitoring.
Revolutionary Approved Therapies
Until recently, SMA was considered incurable. Today, three innovative therapies are radically changing the future.
Zolgensma — Gene Therapy
A single IV infusion that delivers a functional copy of the SMN1 gene. A curative solution targeting the root cause.
Spinraza — SMN2 Modulator (Intrathecal)
Administered via lumbar puncture. Fixes how the SMN2 gene produces protein, ensuring long-term neuron survival.
Evrysdi — SMN2 Modulator (Oral)
The first syrup-based daily treatment. Distributes SMN protein evenly throughout the body.
Newborn Screening: Every Day Counts
Time is the biggest enemy in SMA. Lost motor neurons cannot be recovered. Diagnosis at birth allows treatment to start before symptoms appear.
Goal: Including SMA in mandatory newborn testing in Moldova to stop the disease before it starts.
Standards of Care
Medical treatment must be supported by intensive physical therapy, proper nutrition, and constant respiratory monitoring.
Science and Hope
The global scientific community continues to research new ways to improve muscle strength and quality of life for patients.
SMA Europe Info
SMA Europe provides an updated database of all active clinical trials available worldwide, including for Moldovan patients.