| Spinal muscular atrophy | |
|---|---|
| Other names | Autosomal recessive proximal spinal muscular atrophy, 5q spinal muscular atrophy |
 |
|
| Location of neurons affected by spinal muscular atrophy in the spinal cord | |
| Specialty | Neurology |
| Symptoms | Progressive muscle weakness[1] |
| Complications | Scoliosis, joint contractures, pneumonia[2] |
| Usual onset | Mutation is congenital, symptoms start varies by type |
| Duration | Lifelong |
| Types | Type 0 to type 4[2] |
| Causes | Mutation in SMN1[2] |
| Diagnostic method | Genetic testing[1] |
| Differential diagnosis | Congenital muscular dystrophy, Duchenne muscular dystrophy, Prader-Willi syndrome[2] |
| Treatment | Supportive care, medications[1] |
| Medication | Nusinersen, onasemnogene abeparvovec, Risdiplam |
| Prognosis | Varies by type[2] |
| Frequency | 1 in 10,000 people[2] |
| Spinal muscular atrophy | |
|---|---|
| Other names | Autosomal recessive proximal spinal muscular atrophy, 5q spinal muscular atrophy |
|
|
| Location of neurons affected by spinal muscular atrophy in the spinal cord | |
| Specialty | Neurology |
| Symptoms | Progressive muscle weakness[1] |
| Complications | Scoliosis, joint contractures, pneumonia[2] |
| Usual onset | Mutation is congenital, symptoms start varies by type |
| Duration | Lifelong |
| Types | Type 0 to type 4[2] |
| Causes | Mutation in SMN1[2] |
| Diagnostic method | Genetic testing[1] |
| Differential diagnosis | Congenital muscular dystrophy, Duchenne muscular dystrophy, Prader-Willi syndrome[2] |
| Treatment | Supportive care, medications[1] |
| Medication | Nusinersen, onasemnogene abeparvovec, Risdiplam |
| Prognosis | Varies by type[2] |
| Frequency | 1 in 10,000 people[2] |
