Congenital mirror movements. Three new cases of a rare condition
Introduction. Mirror movements (MM) are involuntary shudders which occur at the same time as voluntary movements of the homologous contralateral muscles. They may occur alone or associated with other pathology. Clinical cases. We present three new cases of congenital MM (CMM) and discuss their clini...
Guardado en:
| Publicado: |
1999
|
|---|---|
| Materias: | |
| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_02100010_v29_n8_p731_Ruggieri http://hdl.handle.net/20.500.12110/paper_02100010_v29_n8_p731_Ruggieri |
| Aporte de: |
| id |
paper:paper_02100010_v29_n8_p731_Ruggieri |
|---|---|
| record_format |
dspace |
| spelling |
paper:paper_02100010_v29_n8_p731_Ruggieri2023-06-08T15:20:40Z Congenital mirror movements. Three new cases of a rare condition Congenital mirror movements Enuresis Mirror movements Palpebral ptosis creatine kinase glucose lactic acid adult article autosomal dominant inheritance case report child clinical feature congenital mirror movement creatine kinase blood level disease association electromyogram electroretinography family history human involuntary movement Kallmann syndrome Klippel Feil syndrome lactate blood level male motor dysfunction muscle fatigue neurologic examination neuropsychological test nocturnal enuresis nuclear magnetic resonance imaging onset age ptosis spine radiography usher syndrome voluntary movement brain cognitive defect enuresis histology hospitalization motor dysfunction physiology preschool child ptosis Adult Blepharoptosis Brain Child Child, Preschool Cognition Disorders Enuresis Humans Magnetic Resonance Imaging Male Movement Disorders Neuropsychological Tests Severity of Illness Index Introduction. Mirror movements (MM) are involuntary shudders which occur at the same time as voluntary movements of the homologous contralateral muscles. They may occur alone or associated with other pathology. Clinical cases. We present three new cases of congenital MM (CMM) and discuss their clinical, physiopathological and genetic aspects. Case 1. A four year old boy was brought to the clinic because he dropped things held in one hand when he tried to take things with the other. On examination it was seen that when he made a voluntary movement with one hand, the other hand made a similar movement simultaneously and involuntarily. This phenomenon had been observed since he was a few months old. Apart from this, the rest of the neurological examination was normal. Cerebral MR was also normal Neuropsychological assessment showed borderline intellectual function. Case 2. The first patient's father, who was 26 years old, knew no details of his own family history. Since childhood he had noticed that he himself had made similar movements to those of his son. However, with time, he had managed to partially control and even inhibit these movements. His cerebral MR scan was normal. Case 3. An 11 year old boy consulted for MM, non-fluctuating congenital palpebral ptosis and nocturnal enuresis. The neurological examination and his intelligence were found to be normal. One of his sisters had palpebral ptosis and nocturnal enuresis without MM. His cerebral MR, Xray of his spine, EMG, electroretinogram, CPK, blood lactate, glucemia, urine and urological examination were normal. Conclusions. MM may be another manifestation within the clinical spectrum of diverse encephalopathies; may be associated with different syndromes (Kallman, Klippel-Feil and Usher amongst others) or may present alone. Both familial and sporadic cases have been described. We consider our cases 1 and 2 to be of the familial CMM condition, with autosomal dominant inheritance, in which MM was the only finding. The association observed in case 3 has not previously been described. It may possibly be a condition transmitted by autosomal recessive inheritance. 1999 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_02100010_v29_n8_p731_Ruggieri http://hdl.handle.net/20.500.12110/paper_02100010_v29_n8_p731_Ruggieri |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Congenital mirror movements Enuresis Mirror movements Palpebral ptosis creatine kinase glucose lactic acid adult article autosomal dominant inheritance case report child clinical feature congenital mirror movement creatine kinase blood level disease association electromyogram electroretinography family history human involuntary movement Kallmann syndrome Klippel Feil syndrome lactate blood level male motor dysfunction muscle fatigue neurologic examination neuropsychological test nocturnal enuresis nuclear magnetic resonance imaging onset age ptosis spine radiography usher syndrome voluntary movement brain cognitive defect enuresis histology hospitalization motor dysfunction physiology preschool child ptosis Adult Blepharoptosis Brain Child Child, Preschool Cognition Disorders Enuresis Humans Magnetic Resonance Imaging Male Movement Disorders Neuropsychological Tests Severity of Illness Index |
| spellingShingle |
Congenital mirror movements Enuresis Mirror movements Palpebral ptosis creatine kinase glucose lactic acid adult article autosomal dominant inheritance case report child clinical feature congenital mirror movement creatine kinase blood level disease association electromyogram electroretinography family history human involuntary movement Kallmann syndrome Klippel Feil syndrome lactate blood level male motor dysfunction muscle fatigue neurologic examination neuropsychological test nocturnal enuresis nuclear magnetic resonance imaging onset age ptosis spine radiography usher syndrome voluntary movement brain cognitive defect enuresis histology hospitalization motor dysfunction physiology preschool child ptosis Adult Blepharoptosis Brain Child Child, Preschool Cognition Disorders Enuresis Humans Magnetic Resonance Imaging Male Movement Disorders Neuropsychological Tests Severity of Illness Index Congenital mirror movements. Three new cases of a rare condition |
| topic_facet |
Congenital mirror movements Enuresis Mirror movements Palpebral ptosis creatine kinase glucose lactic acid adult article autosomal dominant inheritance case report child clinical feature congenital mirror movement creatine kinase blood level disease association electromyogram electroretinography family history human involuntary movement Kallmann syndrome Klippel Feil syndrome lactate blood level male motor dysfunction muscle fatigue neurologic examination neuropsychological test nocturnal enuresis nuclear magnetic resonance imaging onset age ptosis spine radiography usher syndrome voluntary movement brain cognitive defect enuresis histology hospitalization motor dysfunction physiology preschool child ptosis Adult Blepharoptosis Brain Child Child, Preschool Cognition Disorders Enuresis Humans Magnetic Resonance Imaging Male Movement Disorders Neuropsychological Tests Severity of Illness Index |
| description |
Introduction. Mirror movements (MM) are involuntary shudders which occur at the same time as voluntary movements of the homologous contralateral muscles. They may occur alone or associated with other pathology. Clinical cases. We present three new cases of congenital MM (CMM) and discuss their clinical, physiopathological and genetic aspects. Case 1. A four year old boy was brought to the clinic because he dropped things held in one hand when he tried to take things with the other. On examination it was seen that when he made a voluntary movement with one hand, the other hand made a similar movement simultaneously and involuntarily. This phenomenon had been observed since he was a few months old. Apart from this, the rest of the neurological examination was normal. Cerebral MR was also normal Neuropsychological assessment showed borderline intellectual function. Case 2. The first patient's father, who was 26 years old, knew no details of his own family history. Since childhood he had noticed that he himself had made similar movements to those of his son. However, with time, he had managed to partially control and even inhibit these movements. His cerebral MR scan was normal. Case 3. An 11 year old boy consulted for MM, non-fluctuating congenital palpebral ptosis and nocturnal enuresis. The neurological examination and his intelligence were found to be normal. One of his sisters had palpebral ptosis and nocturnal enuresis without MM. His cerebral MR, Xray of his spine, EMG, electroretinogram, CPK, blood lactate, glucemia, urine and urological examination were normal. Conclusions. MM may be another manifestation within the clinical spectrum of diverse encephalopathies; may be associated with different syndromes (Kallman, Klippel-Feil and Usher amongst others) or may present alone. Both familial and sporadic cases have been described. We consider our cases 1 and 2 to be of the familial CMM condition, with autosomal dominant inheritance, in which MM was the only finding. The association observed in case 3 has not previously been described. It may possibly be a condition transmitted by autosomal recessive inheritance. |
| title |
Congenital mirror movements. Three new cases of a rare condition |
| title_short |
Congenital mirror movements. Three new cases of a rare condition |
| title_full |
Congenital mirror movements. Three new cases of a rare condition |
| title_fullStr |
Congenital mirror movements. Three new cases of a rare condition |
| title_full_unstemmed |
Congenital mirror movements. Three new cases of a rare condition |
| title_sort |
congenital mirror movements. three new cases of a rare condition |
| publishDate |
1999 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_02100010_v29_n8_p731_Ruggieri http://hdl.handle.net/20.500.12110/paper_02100010_v29_n8_p731_Ruggieri |
| _version_ |
1768545462810312704 |