Phenotype #0000073809
| Individual ID |
00095409 |
| Associated disease |
MRMV1 |
| Phenotype details |
Voluntary EMG - abnormal bilateral EMG activity during unilateral contraction of APB muscle. Focal TMS - abnormal bilateral motor evoked potentials in the thenar muscle following unilateral stimulation of the motor cortex. Shorter cortical silent period following unilateral M1 stimulation; lengthening of cortical silent period following bilateral M1 stimulation. During intended unilateral contraction, dissocciation of task-related short-interval intracortical inhibition modulation between task and mirror APB. F waves - normal ipsilateral F waves evoked from unilateral median nerve stimulation. SEP - normal, lateralized latencies of the N20 and P25 parietal components of the median nerve somatosensory evoked potentials. LLR - normal ipsilateral V1 but abnormal bilateral V2 long-latency EMG responses recorded in both thenar muscles.
Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 47%. Latency of contralateral MEPs (ms) = 21,9. Latency of ipsilateral MEPs (ms) = 22,5. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| MotorSkills |
Difficulties in fine bimanual activities; pain/cramp during sustained manual activities |
| Severity_score |
Woods & Teuber 3 (hands, forearms and arms) |
| Protein |
- |
| Brain/Imaging |
MRI |
| Owner name |
Ashley Marsh |
| Database submission license |
No license selected |
| Created by |
Ashley Marsh |
| Date created |
2017-01-13 22:04:50 +01:00 (CET) |
| Date last edited |
2020-01-10 12:28:57 +01:00 (CET) |
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