ICNC Abstracts, ICNC 2018

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CARDIOPULMONARY ASSESSMENT IN CHILDREN WITH DUCHENNE MUSCULAR DYSTROPHY
Priyanka Madhukar Meshram

Last modified: 2018-09-09

Abstract


INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common X-linked recessive muscular dystrophy affecting 1 in 3,600 boys. DMD is caused by a mutation in the dystrophin gene, which codes for the protein dystrophin. Its absence leads to degeneration of muscle cells. Striated, cardiac and respiratory muscles get eventually affected leading to cardiorespiratory failure.

AIMS AND OBJECTIVES: To assess the cardiopulmonary functions in the patients with Duchenne muscular dystrophy and to analyze their changes in correlation to their physical ability and muscle function.

MATERIALS AND METHODS: A cross-sectional observational study was conducted on 30 patients of DMD above 6 years of age. Clinical details, Gower time, CPK levels, type of genetic mutation and cardiac functions and pulmonary functions were analyzed.

RESULTS: 3.3% & 6.7% were symptomatic for respiratory and cardiac involvement respectively. 73.3% patient had abnormal ECG. 20% had abnormal 2D ECHO. Deep Q (46.7%) and abnormal R/S in V2 (43.3%) were the most frequent electrocardiographic finding. There was no correlation between the ECG and 2D Echo findings. Abnormal spirometry was seen in 56.7%. The pCO2 levels correlated (p=0.023) with the severity of restriction. Gowers’ time was significantly more in patients with restrictive lung disease (p=0.006).

CONCLUSION: Gowers’ time and timed motor tests aid as a red flag for cardiorespiratory dysfunction. ECG is a better diagnostic test to detect subclinical cardiac involvement. Regular cardiorespiratory assessment along with the timed motor tests should be done in clinical follow-up.


Keywords


Duchenne Muscular Dystrophy

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