Myotonia congenita and myoadenylate deaminase deficiency: case report
Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions,...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia (ABNEURO)
2003-01-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000200019 |
| _version_ | 1811224640304971776 |
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| author | Scola Rosana Herminia Iwamoto Fabio Massaiti Camargo Carlos Henrique Arruda Walter Oleschko Werneck Lineu Cesar |
| author_facet | Scola Rosana Herminia Iwamoto Fabio Massaiti Camargo Carlos Henrique Arruda Walter Oleschko Werneck Lineu Cesar |
| author_sort | Scola Rosana Herminia |
| collection | DOAJ |
| description | Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental. |
| first_indexed | 2024-04-12T08:51:19Z |
| format | Article |
| id | doaj.art-28734cd6ea324a28b1399608a6875fdc |
| institution | Directory Open Access Journal |
| issn | 0004-282X 1678-4227 |
| language | English |
| last_indexed | 2024-04-12T08:51:19Z |
| publishDate | 2003-01-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-28734cd6ea324a28b1399608a6875fdc2022-12-22T03:39:33ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria0004-282X1678-42272003-01-01612A262264Myotonia congenita and myoadenylate deaminase deficiency: case reportScola Rosana HerminiaIwamoto Fabio MassaitiCamargo Carlos HenriqueArruda Walter OleschkoWerneck Lineu CesarApproximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000200019myotonia congenitamyoadenilate deaminasemuscle biopsy |
| spellingShingle | Scola Rosana Herminia Iwamoto Fabio Massaiti Camargo Carlos Henrique Arruda Walter Oleschko Werneck Lineu Cesar Myotonia congenita and myoadenylate deaminase deficiency: case report Arquivos de Neuro-Psiquiatria myotonia congenita myoadenilate deaminase muscle biopsy |
| title | Myotonia congenita and myoadenylate deaminase deficiency: case report |
| title_full | Myotonia congenita and myoadenylate deaminase deficiency: case report |
| title_fullStr | Myotonia congenita and myoadenylate deaminase deficiency: case report |
| title_full_unstemmed | Myotonia congenita and myoadenylate deaminase deficiency: case report |
| title_short | Myotonia congenita and myoadenylate deaminase deficiency: case report |
| title_sort | myotonia congenita and myoadenylate deaminase deficiency case report |
| topic | myotonia congenita myoadenilate deaminase muscle biopsy |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000200019 |
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