Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1)...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2011-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400003&lng=en&tlng=en |
| _version_ | 1819020648344715264 |
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| author | Eduardo Luis de Aquino Neves Fernando Kok |
| author_facet | Eduardo Luis de Aquino Neves Fernando Kok |
| author_sort | Eduardo Luis de Aquino Neves |
| collection | DOAJ |
| description | Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign. |
| first_indexed | 2024-12-21T03:54:33Z |
| format | Article |
| id | doaj.art-fd49254cd235455dbea2d6aa5a34b2e9 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-21T03:54:33Z |
| publishDate | 2011-06-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-fd49254cd235455dbea2d6aa5a34b2e92022-12-21T19:16:53ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272011-06-0169342443010.1590/S0004-282X2011000400003S0004-282X2011000400003Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signsEduardo Luis de Aquino Neves0Fernando Kok1Universidade de São PauloUniversidade de São PauloCharcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400003&lng=en&tlng=endoença de Charcot-Marie-ToothCMT2neuropatia hereditária axonal |
| spellingShingle | Eduardo Luis de Aquino Neves Fernando Kok Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs Arquivos de Neuro-Psiquiatria doença de Charcot-Marie-Tooth CMT2 neuropatia hereditária axonal |
| title | Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs |
| title_full | Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs |
| title_fullStr | Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs |
| title_full_unstemmed | Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs |
| title_short | Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs |
| title_sort | clinical and neurophysiological investigation of a large family with dominant charcot marie tooth type 2 disease with pyramidal signs |
| topic | doença de Charcot-Marie-Tooth CMT2 neuropatia hereditária axonal |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400003&lng=en&tlng=en |
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