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The THAP1 mutations database - List of Phenotypic information |
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| Symptom | Severity |
|---|---|
| Age at last examination | |
| Age of onset | arm arm+cervical arm+cranial arm+head cranial face foot hand jaw larynx larynx+cervical leg neck speech unknown |
| Arm | bilateral hand tremor mild moderate |
| Asymptomatic | |
| Cranial | |
| Deep Brain Stimulation | Excellent long-term effects Good improvement of axial and limb dystonia. No improvement of disarthria. Improvement of axial and limb dystonia. No improvement of speech. mild improvement Mild improvement of axial and limb dystonia. Mild improvement of cervical and limb dystonia. No improvement of dysarthria. moderate improvement |
| Dysarthria | mild moderate severe |
| Essential hand tremor | |
| Face | blepharospasm mild |
| Foot | |
| Incomplete clinical description | |
| Jaw | severe |
| Larynx | moderate severe |
| Left arm | |
| Left leg | |
| Leg | bilateral mild moderate severe |
| Neck | mild moderate Severe |
| No clinical data available | |
| Paroxysmal head shake | |
| Right arm | |
| Right leg | |
| Site of onset-Foot | |
| Site of onset-Hand (writer's dystonia) | |
| Site of onset-Orofacial/Oromandibular | |
| Speech | mild |
| Spontaneous complete remission (honeymoon) | from 18 to 22 |
| Tongue | mild severe |
| Trunk | mild moderate |