Phenotypic and immunohistochemical characterization of sarcoglycanopathies
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup o...
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| Format: | Article |
| Language: | English |
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Elsevier España
2011-01-01
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| Series: | Clinics |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011001000008 |
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| author | Ana F. B. Ferreira Mary S. Carvalho Maria Bernadete D. Resende Alda Wakamatsu Umbertina Conti Reed Suely Kazue Nagahashi Marie |
| author_facet | Ana F. B. Ferreira Mary S. Carvalho Maria Bernadete D. Resende Alda Wakamatsu Umbertina Conti Reed Suely Kazue Nagahashi Marie |
| author_sort | Ana F. B. Ferreira |
| collection | DOAJ |
| description | INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause secondary deficiencies in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology - HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of São Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The patients were divided into the following groups based on the immunohistochemical findings: a-sarcoglycanopathies (16 patients), b-sarcoglycanopathies (1 patient), y-sarcoglycanopathies (5 patients), and nonsarcoglycanopathies (23 patients). The muscle strength analysis revealed significant differences for both upper and lower limb muscles, particularly the shoulder and hip muscles, as expected. No pattern of joint contractures was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in patients with a-sarcoglycanopathies, while calf pseudo-hypertrophy was most common in patients with non-sarcoglycanopathies. The a-sarcoglycanopathy patients presented with more severe muscle weakness than did y-sarcoglycanopathy patients. CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes. |
| first_indexed | 2024-04-13T12:24:24Z |
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| id | doaj.art-88d54ba2fb84474daeb456c461d3d609 |
| institution | Directory Open Access Journal |
| issn | 1807-5932 1980-5322 |
| language | English |
| last_indexed | 2024-04-13T12:24:24Z |
| publishDate | 2011-01-01 |
| publisher | Elsevier España |
| record_format | Article |
| series | Clinics |
| spelling | doaj.art-88d54ba2fb84474daeb456c461d3d6092022-12-22T02:47:04ZengElsevier EspañaClinics1807-59321980-53222011-01-0166101713171910.1590/S1807-59322011001000008Phenotypic and immunohistochemical characterization of sarcoglycanopathiesAna F. B. FerreiraMary S. CarvalhoMaria Bernadete D. ResendeAlda WakamatsuUmbertina Conti ReedSuely Kazue Nagahashi MarieINTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause secondary deficiencies in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology - HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of São Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The patients were divided into the following groups based on the immunohistochemical findings: a-sarcoglycanopathies (16 patients), b-sarcoglycanopathies (1 patient), y-sarcoglycanopathies (5 patients), and nonsarcoglycanopathies (23 patients). The muscle strength analysis revealed significant differences for both upper and lower limb muscles, particularly the shoulder and hip muscles, as expected. No pattern of joint contractures was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in patients with a-sarcoglycanopathies, while calf pseudo-hypertrophy was most common in patients with non-sarcoglycanopathies. The a-sarcoglycanopathy patients presented with more severe muscle weakness than did y-sarcoglycanopathy patients. CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011001000008SarcoglycanopathiesMuscle weaknessJoint contracturesTiptoe gaitCalf pseudo-hypertrophy |
| spellingShingle | Ana F. B. Ferreira Mary S. Carvalho Maria Bernadete D. Resende Alda Wakamatsu Umbertina Conti Reed Suely Kazue Nagahashi Marie Phenotypic and immunohistochemical characterization of sarcoglycanopathies Clinics Sarcoglycanopathies Muscle weakness Joint contractures Tiptoe gait Calf pseudo-hypertrophy |
| title | Phenotypic and immunohistochemical characterization of sarcoglycanopathies |
| title_full | Phenotypic and immunohistochemical characterization of sarcoglycanopathies |
| title_fullStr | Phenotypic and immunohistochemical characterization of sarcoglycanopathies |
| title_full_unstemmed | Phenotypic and immunohistochemical characterization of sarcoglycanopathies |
| title_short | Phenotypic and immunohistochemical characterization of sarcoglycanopathies |
| title_sort | phenotypic and immunohistochemical characterization of sarcoglycanopathies |
| topic | Sarcoglycanopathies Muscle weakness Joint contractures Tiptoe gait Calf pseudo-hypertrophy |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011001000008 |
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