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

Official abbreviation MRMV1
Name mirror movements, type 1 (MRMV-1, congenital)
OMIM ID 157600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 60
Phenotype entries for this disease 33
Associated with 1 gene DCC
Associated tissues -
Disease features -
Remarks -


Individuals

60 entries on 1 page. Showing entries 1 - 60.
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00095326 - Journal: Marsh 2017 - F yes Algeria North African - - - - ACC, MRMV1 MRI brain partial agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095334 - Journal: Marsh 2017 - F - Australia white - - - - ACC, MRMV1 severity score Woods & Teuber 2; mirror movement functional effect = taps/cooking/dishes/drawing; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. Mirror movement asymmetry (L>R) DCC DCC 1 1 Ashley Marsh
00095335 - Journal: Marsh 2017 - M - Australia white - - - - ACC, MRMV1 severity score Woods & Teuber 2; no functional effect motor skills; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) DCC DCC 1 1 Ashley Marsh
00095336 - Journal: Marsh 2017 - M - Australia white - - - - ACC, MRMV1 severity score Woods & Teuber 2; no functional effect motor skills; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) DCC DCC 1 1 Ashley Marsh
00095337 - Journal: Marsh 2017 - M - Australia white - - - - ACC, MRMV1 severity score Woods & Teuber 3; mirror movement functional effect = writng/drawing/dishes; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) DCC DCC 1 1 Ashley Marsh
00095338 - Journal: Marsh 2017 - M - Algeria North African - - - - MRMV1 no additional phenotype DCC DCC 1 1 Ashley Marsh
00095339 - Journal: Marsh 2017 - M - Algeria North African - - - - MRMV1 no additional phenotype DCC DCC 1 1 Ashley Marsh
00095340 - Journal: Marsh 2017 - F - Algeria North African - - - - ACC, MRMV1 severity score Woods & Teuber 2 (hands and forearms); difficulties in fine bimanual activities. General clumsiness; MRI brain partial agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095341 - Journal: Marsh 2017 - M - Algeria North African - - - - ACC, MRMV1 MRI brain partial agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095343 - Journal: Marsh 2017 - F - Algeria North African - - - - MRMV1 no additional phenotype DCC DCC 1 1 Ashley Marsh
00095346 - Journal: Marsh 2017 - F - Australia white - - - - MRMV1 Fingers/hands/wrists/toes/legs. Mirror movement asymmetry (L>R). Right handed DCC DCC 1 1 Ashley Marsh
00095347 - Journal: Marsh 2017 - M - Australia white - - - - ACC, MRMV1 severity score Woods & Teuber 2; no functional effect motor skills; MRI brain partial agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) DCC DCC 1 1 Ashley Marsh
00095348 - Journal: Marsh 2017 - F - Australia white - - - - MRMV1 Fingers/hands/wrists. L>R mirror movement asymmetry. Ambidextrous DCC DCC 1 1 Ashley Marsh
00095359 - PubMed: Meneret 2014 - M - Germany white - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095360 - PubMed: Meneret 2014 - M - Germany white - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095361 - PubMed: Meneret 2014 - M - - African - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095362 - PubMed: Meneret 2014 - F - France white - - - - MRMV1 no additional phenotype DCC DCC 1 1 Ashley Marsh
00095363 - PubMed: Meneret 2014 - F - France white - - - - MRMV1 - DCC DCC 1 1 Ashley Marsh
00095364 - PubMed: Meneret 2015 - M - France white - - - - ACC, MRMV1 MRI brain partial agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095370 - PubMed: Meneret 2014 - F - Italy white - - - - ?, MRMV1 - DCC DCC 2 1 Ashley Marsh
00095371 - PubMed: Meneret 2014 - M yes Turkey white - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095372 - PubMed: Meneret 2014 - F - United States white - - - - ?, MRMV1 Parkinson's disease DCC DCC 1 1 Ashley Marsh
00095374 - PubMed: Srour 2010 - M - Iran Persian - - - - MRMV1 CMM confirmed by electromyography DCC DCC 1 1 Ashley Marsh
00095375 - PubMed: Srour 2010 - M - Iran Persian - - - - MRMV1 CMM confirmed by electromyography DCC DCC 1 1 Ashley Marsh
00095377 - PubMed: Srour 2010 - M - Iran Persian - - - - ?, MRMV1 CMM confirmed by electromyography DCC DCC 1 1 Ashley Marsh
00095379 - PubMed: Srour 2010 - M - Iran Persian - - - - MRMV1 CMM confirmed by electromyography DCC DCC 1 1 Ashley Marsh
00095384 - PubMed: Srour 2009 - M - Canada white - - - - MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095386 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 N/A DCC DCC 1 1 Ashley Marsh
00095387 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095388 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095389 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095390 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095391 - PubMed: Srour 2009 - F - Canada white - - - - ?, MRMV1 Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095393 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095394 - PubMed: Srour 2009 - F - Canada white - - - - ?, MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095395 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095396 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095397 - PubMed: Srour 2009 - M - Canada white - - - - ?, MRMV1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace DCC DCC 1 1 Ashley Marsh
00095398 - PubMed: Borgheresi 2010 PubMed: Welniarz 2017 - F - Italy white - - - - ?, MRMV1 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. DCC DCC 1 1 Ashley Marsh
00095399 - PubMed: Meneret 2014 - M - France white - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095401 - PubMed: Franz 2015 2-generation family, 4 affected (F, 3M), mother F - Australia white - - - - ?, MRMV1 DexterO (Franz Lab, University of Otago) accelerometer gloves - micro-movements DCC DCC 1 4 Ashley Marsh
00095402 - PubMed: Franz 2015 - M - Australia white - - - - ?, MRMV1 Fractionated mirroring (fragmented, saccadic movements) DCC DCC 1 1 Ashley Marsh
00095403 - PubMed: Franz 2015 - M - Australia white - - - - ?, MRMV1 DexterO (Franz Lab, University of Otago) accelerometer gloves - micro-movements DCC DCC 1 1 Ashley Marsh
00095404 - PubMed: Franz 2015 - M - Australia white - - - - ?, MRMV1 Fractionated mirroring (fragmented, saccadic movements) DCC DCC 1 1 Ashley Marsh
00095405 - PubMed: Meneret 2014 - F - Germany white - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095406 - PubMed: Meneret 2014 - F - Germany white - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095407 - PubMed: Meneret 2014 - F - Germany white - - - - ?, MRMV1 - DCC DCC 1 1 Ashley Marsh
00095408 - PubMed: Depienne 2011 - F - Italy white - - - - ?, MRMV1 Depression DCC DCC 1 1 Ashley Marsh
00095409 - PubMed: Depienne 2011 PubMed: Welniarz 2017 - F - Italy white - - - - MRMV1 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. DCC DCC 1 1 Ashley Marsh
00095410 - PubMed: Depienne 2011 PubMed: Welniarz 2017 - M - Italy white - - - - ?, MRMV1 Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 322%. Latency of contralateral MEPs (ms) = 23,0. Latency of ipsilateral MEPs (ms) = 22,7. DCC DCC 1 1 Ashley Marsh
00095411 - PubMed: Depienne 2011 - M - Italy white - - - - ?, MRMV1 Fallot tetralogy. CMM improvement with aging DCC DCC 1 1 Ashley Marsh
00101209 - PubMed: Jamuar et al 2017 offspring of 00101208 M yes Mexico Hispanic - - - - HGPPS2, MRMV1 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia, short stature. Mirror movements. DCC DCC 1 1 Ashley Marsh
00101210 - PubMed: Jamuar 2017 offspring of 00101208 M yes Mexico Hispanic - - - - HGPPS2, MRMV1 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia. Mirror movements. DCC DCC 1 1 Ashley Marsh
00144655 P3a PubMed: Bierhals 2018 - F no Germany white - - - - MRMV1 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. DCC DCC 1 3 Tatjana Bierhals
00144656 P1 PubMed: Bierhals 2018 - M no Germany white - - - - MRMV1 MM could be suppressed, to some degree, by voluntarily increasing the muscle tone in the non-task hand, but complete suppression was not possible. DCC DCC 1 1 Tatjana Bierhals
00144658 P2 PubMed: Bierhals 2018 - M no Turkey white - - - - MRMV1 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” DCC DCC 1 1 Tatjana Bierhals
00144660 P4a PubMed: Bierhals 2018 - M no Germany white - - - - MRMV1 Hands and forearms. Mild difficulties in fine bimanual activities. Mirror movement asymmetry (L>R). Migraine. DCC DCC 1 4 Tatjana Bierhals
00144662 P5 PubMed: Bierhals 2018 - M no Spain white - - - - MRMV1 Clumsiness, difficulties in fine bimanual activities. Hands, forearms and arms. Gross motor development was slightly delayed. DCC DCC 1 1 Tatjana Bierhals
00163781 - PubMed: Bouilly 2018 Caucasian M no - - - - - - KAL, MRMV1 Absent puberty Cryptorchidism Micropenis Right inguinal hernia Hypospadias Mild facial asymmetry Right ear hypoplasia Anosmic (< 5th %ile) At age 13, he had absent puberty (testes 1 ml) and hormonal profiling compatible with hypogonadotropic hypogonadism (T<1.0 nmol/l, LH&FSH < 0.5 U/l), delayed childhood motor milestones; 3y-head CT normal - DCC 1 1 Ashley Marsh
00163782 - PubMed: Bouilly 2018 Caucasian M no - - - - - - KAL, MRMV1 Absent puberty Micropenis without cryptorchidism Mental retardation Obesity Glucose intolerance Moderate hypotonia Cavum septum pellucidum, reduced pituitary volume, decreased Rathke’s cyst, olfactory bulb asymmetry Gonadotropines levels were low for minipuberty (LH 0.5 U/l, FSH 0.7 U/l) without dysfunction of other pituitary axes, CMM, iInfancy was marked by retarded speech - DCC 1 1 Ashley Marsh
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