Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2001-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022&tlng=en |
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| _version_ | 1850229718166536192 |
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| author | Rosana Herminia Scola Lineu Cesar Werneck Fabio Massaiti Iwamoto Letícia Cristine Ribas Salmo Raskin Ylmar Correa Neto |
| author_facet | Rosana Herminia Scola Lineu Cesar Werneck Fabio Massaiti Iwamoto Letícia Cristine Ribas Salmo Raskin Ylmar Correa Neto |
| author_sort | Rosana Herminia Scola |
| collection | DOAJ |
| description | We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous. |
| format | Article |
| id | doaj-art-d1923be6f4fb45b38af6153136eff9f9 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2001-06-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-d1923be6f4fb45b38af6153136eff9f92025-08-20T02:04:06ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272001-06-01592A25926210.1590/S0004-282X2001000200022Congenital contractural arachnodactyly with neurogenic muscular atrophy: case reportRosana Herminia Scola0Lineu Cesar Werneck1Fabio Massaiti Iwamoto2Letícia Cristine Ribas3Salmo Raskin4Ylmar Correa Neto5Universidade Federal do ParanáUniversidade Federal do ParanáUniversidade Federal do ParanáUniversidade Federal do ParanáUniversidade Federal do ParanáUniversidade Federal do ParanáWe report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022&tlng=encongenital contractural arachnodactylyspinal muscular atrophymotor neuron diseasesurvival motor neuron gene |
| spellingShingle | Rosana Herminia Scola Lineu Cesar Werneck Fabio Massaiti Iwamoto Letícia Cristine Ribas Salmo Raskin Ylmar Correa Neto Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report Arquivos de Neuro-Psiquiatria congenital contractural arachnodactyly spinal muscular atrophy motor neuron disease survival motor neuron gene |
| title | Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report |
| title_full | Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report |
| title_fullStr | Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report |
| title_full_unstemmed | Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report |
| title_short | Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report |
| title_sort | congenital contractural arachnodactyly with neurogenic muscular atrophy case report |
| topic | congenital contractural arachnodactyly spinal muscular atrophy motor neuron disease survival motor neuron gene |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022&tlng=en |
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