Phenotypes for disease #01441 (MRMV1 (mirror movements, type 1 (MRMV-1, congenital)), OMIM:157600)

33 entries on 1 page. Showing entries 1 - 33.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
MotorSkills     
Severity_score     
Protein     
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Individual ID     
0000073738 no additional phenotype - - Unknown - - - - - - - CT Ashley Marsh 00095338
0000073739 no additional phenotype - - Unknown - - - - Difficulties in fine bimanual activities, writing and general clumsiness Woods & Teuber 3 (hands and forearms) - MRI Ashley Marsh 00095339
0000073743 no additional phenotype - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities, writing and general clumsiness Woods & Teuber 4 (hands and forearms) - MRI Ashley Marsh 00095343
0000073746 Fingers/hands/wrists/toes/legs. Mirror movement asymmetry (L>R). Right handed - - Familial, autosomal dominant - - - - No functional effect Woods & Teuber 2 - MRI Ashley Marsh 00095346
0000073748 Fingers/hands/wrists. L>R mirror movement asymmetry. Ambidextrous - - Familial, autosomal dominant - - - - Mirror movement functional effect = writing Woods & Teuber 3 - MRI Ashley Marsh 00095348
0000073759 - - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities and everyday tasks Woods & Teuber 3 (hands) - no Ashley Marsh 00095359
0000073760 - - - Unknown - - - - None Woods & Teuber 2-3 (hands and forearms) - no Ashley Marsh 00095360
0000073761 - - - Familial, autosomal dominant - - - - Writing fatigability Woods & Teuber 2 (hands and forearms > feet) - no Ashley Marsh 00095361
0000073762 no additional phenotype - - Familial, autosomal dominant - - - - Unable to perform a purely unimanual movement. Difficulties in fine bimanual activities. Painful contralateral hand contractions while writing Woods & Teuber 3 (hands, forearms and arms) - MRI Ashley Marsh 00095362
0000073763 - - - Familial, autosomal dominant - - - - Clumsiness and inability to perform pure unimanual activities. Difficulties in fine bimanual activities Woods & Teuber 3 (hands and forearms) - MRI Ashley Marsh 00095363
0000073770 - - - Familial, autosomal dominant; Isolated (sporadic) - - - - None Woods & Teuber 3 (hands and forearms) - no Ashley Marsh 00095370
0000073771 - - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities Woods & Teuber 3 (hands and forearms) - no Ashley Marsh 00095371
0000073772 Parkinson's disease - - Unknown - - - - Difficulties in fine bimanual and bipedal activities Woods & Teuber 3 (hands and forearms > feet and legs) - no Ashley Marsh 00095372
0000073774 CMM confirmed by electromyography - - Unknown - - - - - - - MRI Ashley Marsh 00095374
0000073775 CMM confirmed by electromyography - - Familial, autosomal dominant - - - - - - - MRI Ashley Marsh 00095375
0000073779 CMM confirmed by electromyography - - Familial, autosomal dominant - - - - - - - MRI Ashley Marsh 00095379
0000073784 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace - - Familial, autosomal dominant - - - - - - - MRI Ashley Marsh 00095384
0000073798 Parkinson's disease. Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 409%. Latency of contralateral MEPs (ms) = 22,5. Latency of ipsilateral MEPs (ms) = 22,1. - - Unknown - - - - None Woods & Teuber 3 (hands and forearms) - no Ashley Marsh 00095398
0000073799 - - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities. General clumsiness Woods & Teuber 4 (hands, forearms and arms) - no Ashley Marsh 00095399
0000073805 - - - Unknown - - - - Compensatory maneuvers to limit MRMV1 Woods & Teuber 3 (hands and forearms) - no Ashley Marsh 00095405
0000073806 - - - Unknown - - - - Difficulties in fine bimanual activities. Compensatory maneuvers Woods & Teuber 3 (hands and forearms) - no Ashley Marsh 00095406
0000073807 - - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities. Compensatory maneuvers Woods & Teuber 4 (hands and forearms) - no Ashley Marsh 00095407
0000073808 Depression - - Unknown - - - - Difficulties in fine bimanual activities Woods & Teuber 3 (hands and forearms) - no Ashley Marsh 00095408
0000073809 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. - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities; pain/cramp during sustained manual activities Woods & Teuber 3 (hands, forearms and arms) - MRI Ashley Marsh 00095409
0000073810 Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 322%. Latency of contralateral MEPs (ms) = 23,0. Latency of ipsilateral MEPs (ms) = 22,7. - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities Woods & Teuber 3 (hands, forearms and arms) - no Ashley Marsh 00095410
0000073811 Fallot tetralogy. CMM improvement with aging - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities Woods & Teuber 3 (hands, forearms and arms) - no Ashley Marsh 00095411
0000117392 Parry-Romberg syndrome. Could suppress the CMM partially so that she was able to write bimanually with a computer keyboard. There were no CMM of her feet. - - Familial, autosomal dominant - - - - - Woods & Teuber 2 - MRI Tatjana Bierhals 00144655
0000117393 MM could be suppressed, to some degree, by voluntarily increasing the muscle tone in the non-task hand, but complete suppression was not possible. - - Familial, autosomal dominant - - - - - Woods & Teuber 3 - MRI Tatjana Bierhals 00144656
0000117395 Dissociated movements of the two hands are slower, more clumsy and need concentrated planning; MM seem to be partially suppressed when bimanual tasks are performed; MM in resting hand is visible when only one hand is “working” - - Isolated (sporadic) - - - - - Woods & Teuber 3 - - Tatjana Bierhals 00144658
0000117396 Hands and forearms. Mild difficulties in fine bimanual activities. Mirror movement asymmetry (L>R). Migraine. - - Familial, autosomal dominant - - - - - Woods & Teuber 2R-3L - - Tatjana Bierhals 00144660
0000117398 Clumsiness, difficulties in fine bimanual activities. Hands, forearms and arms. Gross motor development was slightly delayed. - - Familial, autosomal dominant - - - - - Woods & Teuber 2 - - Tatjana Bierhals 00144662
0000128902 delayed childhood motor milestones; 3y-head CT normal - - Familial, autosomal dominant - - - - Mild bilateral synkinesia - - CT Ashley Marsh 00163781
0000128904 CMM, iInfancy was marked by retarded speech - - Familial, autosomal dominant - - - - Retarded psychomotor development - - MRI Ashley Marsh 00163782
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