Table 1.
Clinical symptoms/development by body region and age, and supplementary diagnostics (except brain imaging)
| Body region | Symptom | Age (years) |
|---|---|---|
| CNS | ||
| Sensory-motor | Hypotonic, weak sucking reflex, torticollis | Neonatal |
| Delayed early motor development––(independent sitting at 11 months, walking at 21 months) | Infancy | |
| Dystonia | ||
| Lower limbs (gait dystonia) | 12–13 | |
| Upper limbs (jerky action tremor) | 14 | |
| Axial (trunk opistotonus, retro- and torticollis, tongue protrusion, jaw opening, face grimacing) | 15–16 | |
| Cognitive/emotional | Delayed eye contact | Infancy |
| Spoken language with few-word sentences, reduced vocabulary. Sign language good | Childhood | |
| “ADHD”––diagnosis | 6–7 | |
| Learning difficulties. Reduced social skills | 9–10 | |
| Anxiety, rage outbreaks, hyperimpulsivity | 18–19 | |
| Auditory system | Bilateral deafness | Infancy |
| Cranio-facial | Dysmorphic facial features coarser with age Hypertelorism/broad nasal root/flat malar region in infancy, changing to prominent/long nose with thick nares and high nasal root. Mild ptosis bilaterally Dysplastic, simple ears. High palate | Progression with age |
| Gastro-intestinal | Esophageal reflux/vomiting. Constipation, enemas | Infancy |
| Musculo-skeletal | Contractures PIP-joint dig. III-V ri. hand + dig.IV-V le | 12–13 |
| Anteverted scapulae, thoracic kyphosis | 14 | |
| Supplementary diagnostics | ||
| Cranium | No abnormalities on CT or MRI | |
| Thorax | X-ray, ECG, echocardiography: normal | |
| Abdomen | Ultrasound, CT: distended duodenum, dilated colon, constipation | |
| Urinary tract | Ultrasound, including the kidneys: normal | |