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Lessons Learnt from A Study of Children with Duchenne Muscular Dystrophy: Approach to The Molecular Diagnosis and Its Importance in Emerging Therapies and Preventive Measures

Snehal Mallakmir , Snehal Mallakmir 1 , Ami Shah 2 , Rashid Merchant 3

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Indian Journal of Genetics and Molecular Research 10(2):p 47-50, JULY-DEC 2021. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.10221.2

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Snehal Mallakmir, Ami Shah, Rashid Merchant/Lessons Learnt from a Study of Children with Duchenne Muscular Dystrophy/Indian J Genet Mol Res. 2021; 10(2):47–50.

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Abstract

Currently, there is no curative therapy for Duchenne muscular dystrophy (DMD), but several clinical trials are in progress. It is important to confirm diagnosis using molecular biology techniques. We discuss the molecular approach to diagnosis, limitations of various diagnostic methods and relevance in the light of various emerging therapies. Methods: We retrospectively studied 35 children, aged 3 to 18 years, with clinical phenotype of DMD and study of the dystrophin gene. Results and conclusion: 34 of the 35 children had a confirmed genetic diagnosis. One patient with negative genetic analysis had undergone muscle biopsy and immunohistochemistry for confirmation. New emerging therapies and clinical trials in this field demand an accurate diagnosis, especially when therapy is targeted towards specific mutations. In cases with no specific mutations, final diagnosis needs to be confirmed as well as other dystrophies ruled out in order to guide prognosis, preventive strategies, and family counselling.

 

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Snehal Mallakmir, Ami Shah, Rashid Merchant/Lessons Learnt from a Study of Children with Duchenne Muscular Dystrophy/Indian J Genet Mol Res. 2021; 10(2):47–50.

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DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.10221.2

Keywords

Clinical trials; DMD; Dystrophin gene; Dystrophinopathies; Exon skipping.

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