Table 2.
Clinical findings reported for patients harboring AGTPBP1-mutated gene.
| Feature | Data from [1,2,3,4,36] |
|---|---|
| Onset | Birth to 20 months |
| Gender | 10F, 9M Not available (1) |
| Consanguinity | 14/19 Not available (1) |
| Progressive degenerative course | 19/20 |
| Microcephaly | 11/20 Not available (1) |
| Motor delay | 20/20 |
| Hypotonia | 19/20 Not available (1) |
| Muscle weakness | 16/18 Not available (2) |
| Muscle weakness pattern | Tetraparesis/plegia (8) Lower limb (2) Neck (3) Diaphragm/intercostal (4) Not specified (8) |
| Muscle atrophy | 9/18 |
| Tongue fasciculations | 7/20 Not available (13/20) |
| Tendon reflexes | Low or absent (10/20) Normal (3/20) Increased (6/29) Not available (1) |
| Ataxia | Yes (6) Not available (12) |
| Dystonia | 5/20 Not available (1) |
| Spasticity | 7/20 Not available (3/18) |
| Respiratory distress | 9/20 Not available (1) |
| Feeding difficulties | 13/20 Not available (1) |
| Eye movement abnormalities | Detected (12/20) Not detected (6/20) Not available (2/20) |
| Hearing | Impaired (1/20) Normal (5/20) Not available (14/20) |
| Cognitive delay | 17/20 Not available (3/20) |
| Brain MRI | Cerebellar atrophy (18/20) Dysplastic corpus callosum (6/20) Small pons (1/20) Enlarged CSF spaces (1/20) |
| Nerve conduction studies | Motor neuropathy (2/20) Axonal motor neuropathy (5/20) Normal (1/18) Not available (12/20) |
| Electromyography | Denervation (5/20) Neurogenic (2/20) Normal (1/20) Not available (12/20) |