Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study
Background The diagnosis of muscular dystrophies involves clinical discretion substantiated by dystrophic changes on muscle biopsy. The different subtypes of muscular dystrophy can be diagnosed using techniques to identify the loss of protein or molecular alterations. Materials and Methods Clinical...
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doaj-d6d027921cbc447b869d25107650bdc02021-04-02T11:47:19ZengThieme Medical and Scientific Publishers Pvt. Ltd.Journal of Neurosciences in Rural Practice0976-31470976-31552020-06-01110342042910.1055/s-0040-1713301Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional StudyPallavi Srivastava0Kiran Preet Malhotra1Nuzhat Husain2Hardeep Singh Malhotra3Dinkar Kulshreshtha4Akanksha Anand5Department of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, IndiaDepartment of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, IndiaDepartment of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, IndiaDepartment of Neurology, King George Medical University, Lucknow, Uttar Pradesh, IndiaDepartment of Neurology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, IndiaDepartment of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, IndiaBackground The diagnosis of muscular dystrophies involves clinical discretion substantiated by dystrophic changes on muscle biopsy. The different subtypes of muscular dystrophy can be diagnosed using techniques to identify the loss of protein or molecular alterations. Materials and Methods Clinically suspicious cases confirmed to have muscular dystrophy on muscle biopsy seen at two tertiary care centers in North India were enrolled for the study. Immunohistochemistry (IHC) for dystrophin, merosin, sarcoglycan, emerin, and dysferlin proteins was performed. The spectrum of muscular dystrophies diagnosed was analyzed. Cost of diagnosing the cases using IHC was estimated and compared with that of standard molecular tests available for the diagnosis of muscular dystrophies. Statistics Descriptive statistics were used for data analysis. Mean and standard deviations were used for continuous variables, whereas categorical variables were analyzed using frequency percentage. Results A total of 47 cases of muscular dystrophies were studied. This included nine cases of Duchenne, three cases of Becker’s dystrophy, and one dystrophinopathy carrier. One case of α, seven cases of β, and two cases of δ sarcoglycanopathy, along with two cases of facioscapulohumeral dystrophy and a single case of dysferlinopathy were detected. Genetic studies were required for a subset of 16 cases. The cost of using muscle biopsy and IHC was substantially lower than that of molecular methods for the identification of muscular dystrophy subtypes. Conclusion We detailed an algorithmic approach for diagnosing muscular dystrophies using muscle biopsy. The prevalence of biopsy proven muscular dystrophies from two tertiary care centers in North India is compared with that from other centers. Genetic studies are currently of limited availability in India and are more expensive as compared with biopsy and IHC. Using these methodologies sequentially with a “biopsy first approach” may be the prudent approach for low-income countries.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1713301cost effectivenessimmunohistochemistrymuscular dystrophynext generation sequencingpolymerase chain reaction |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Pallavi Srivastava Kiran Preet Malhotra Nuzhat Husain Hardeep Singh Malhotra Dinkar Kulshreshtha Akanksha Anand |
spellingShingle |
Pallavi Srivastava Kiran Preet Malhotra Nuzhat Husain Hardeep Singh Malhotra Dinkar Kulshreshtha Akanksha Anand Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study Journal of Neurosciences in Rural Practice cost effectiveness immunohistochemistry muscular dystrophy next generation sequencing polymerase chain reaction |
author_facet |
Pallavi Srivastava Kiran Preet Malhotra Nuzhat Husain Hardeep Singh Malhotra Dinkar Kulshreshtha Akanksha Anand |
author_sort |
Pallavi Srivastava |
title |
Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study |
title_short |
Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study |
title_full |
Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study |
title_fullStr |
Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study |
title_full_unstemmed |
Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study |
title_sort |
diagnosing muscular dystrophies: comparison of techniques and their cost effectiveness: a multi-institutional study |
publisher |
Thieme Medical and Scientific Publishers Pvt. Ltd. |
series |
Journal of Neurosciences in Rural Practice |
issn |
0976-3147 0976-3155 |
publishDate |
2020-06-01 |
description |
Background The diagnosis of muscular dystrophies involves clinical discretion substantiated by dystrophic changes on muscle biopsy. The different subtypes of muscular dystrophy can be diagnosed using techniques to identify the loss of protein or molecular alterations.
Materials and Methods Clinically suspicious cases confirmed to have muscular dystrophy on muscle biopsy seen at two tertiary care centers in North India were enrolled for the study. Immunohistochemistry (IHC) for dystrophin, merosin, sarcoglycan, emerin, and dysferlin proteins was performed. The spectrum of muscular dystrophies diagnosed was analyzed. Cost of diagnosing the cases using IHC was estimated and compared with that of standard molecular tests available for the diagnosis of muscular dystrophies.
Statistics Descriptive statistics were used for data analysis. Mean and standard deviations were used for continuous variables, whereas categorical variables were analyzed using frequency percentage.
Results A total of 47 cases of muscular dystrophies were studied. This included nine cases of Duchenne, three cases of Becker’s dystrophy, and one dystrophinopathy carrier. One case of α, seven cases of β, and two cases of δ sarcoglycanopathy, along with two cases of facioscapulohumeral dystrophy and a single case of dysferlinopathy were detected. Genetic studies were required for a subset of 16 cases. The cost of using muscle biopsy and IHC was substantially lower than that of molecular methods for the identification of muscular dystrophy subtypes.
Conclusion We detailed an algorithmic approach for diagnosing muscular dystrophies using muscle biopsy. The prevalence of biopsy proven muscular dystrophies from two tertiary care centers in North India is compared with that from other centers. Genetic studies are currently of limited availability in India and are more expensive as compared with biopsy and IHC. Using these methodologies sequentially with a “biopsy first approach” may be the prudent approach for low-income countries. |
topic |
cost effectiveness immunohistochemistry muscular dystrophy next generation sequencing polymerase chain reaction |
url |
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1713301 |
work_keys_str_mv |
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