The medical history represents an important component in the diagnosis of spinal muscular atrophy (SMA).
Family history
- Are there any hereditary diseases in your family?
- Are there any neurological diseases in your family?
Social anamnesis
Current anamnesis/systemic anamnesis (somatic and psychological complaints) [usually as foreign anamnesis].
Subsequently query motor or clinical findings depending on the age of the patient:
| SMA type | Synonyms | Start | Motor skills | Clinical findings |
| 0 | neonatal form | congenital | reduced fetal (infantile) movements | respiratory disturbances at birth |
| 1 | Acute infantile SMA; Werdnig-Hoffmann type. | Within the first 6 months of life | Unable to sit, stand, or walk freely; frog leg posture (bending of legs, angling of knees outward, and angling of feet inward) | Severe muscular hypotonia (“floppy infant”), powerless crying, weak/reduced coughing, dysphagia with pseudohypersalivation (here, there is no increased salivation due to increased saliva production, but an inability to swallow saliva effectively to the required degree) |
| 2 | Chronic infantile SMA; intermediate SMA. | 7-18 months of age | Sitting freely is possible, but dependent on walking aids;standing and walking not possible |
Delayed motor development, poor thriving, fine-beat hand tremor, weak/reduced cough thrust, respiratory insufficiency (respiratory weakness) as the condition progresses
Scoliosis (lateral curvature of the spine) and joint contractures (joint stiffness) |
| 3 | Kugelberg catfish (juvenile SMA) | > 18 months of age | Free standing and walking is learned | Variable expression of muscle weakness and atrophy; fine-beat hand tremor, loss of walking ability is possible over time/falls |
| 3a | < 3 years | |||
| 3b | > 3 years | |||
| 4 | adult SMA | <30 years of age | Free standing and walking is learned | Mild course with ability to walk usually preserved; falls |
Vegetative anamnesis incl. nutritional anamnesis
- Is the child overweight? Please give us the body weight (in kg) and height (in cm).
Self-history
- Pre-existing conditions (pneumonia (lung infection), heart failure (cardiac insufficiency), lymphedema (proliferation of tissue fluid due to damage to the lymphatic system), mental disorders).
- Operations
- Allergies
* If this question has been answered with “Yes”, an immediate visit to the doctor is required! (Information without guarantee)
