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Respiratory Muscle Decline in Duchenne
Muscular Dystrophy
Mahmoud Halawa M.D
Benha University, Egypt
Duchenne Muscular Dystrophy(DMD)
The most common cause of muscular dystrophy in children
Prevalence: 1.3 to 1.8 per 10,000
X-linked recessive
Mutation of the dystrophin gene.
Muscle weaknessProgressive difficulty in walkingBreathing difficulties Heart diseaseLearning difficulties (the IQ can be below 75)Intellectual disability
Symptoms usually appear between 2-3 y of age, the patient become wheelchair bound by age 12 and death occurs by age 20
Diagnosis:
Creatine phosphokinase (CPK)Electromyography (EMG)Electrocardiogram (EKG)Genetic analysisMuscle biopsy
Treatment:
No curative treatment till nowGene therapy still under trialCorticosteroidsACE inhibitorsMobility aidsBreathing assistanceSurgery
Hospital Armand Trousseau, Paris, France.
The study
Study Objective: analyze the trend of a number of respiratory parameters in patients with DMD to gain further information on the course of the disease.
Study Design: Retrospective analysis
Subject Selection: 28 boys with DMD, age range between 6-19 year old, who were followed between 2001 and 2011.
Methodology: Lung function, blood gases, respiratory mechanics, and muscle strength were measured during routine follow-up over a 10 years.
All patients were treated with ACE inhibitors
None received corticosteroids
Patients with vertebral arthrodesis surgery were not excluded
Only data before the initiation of NPPV were taken into account
Lung Function and Respiratory Muscle Tests
Non-Invasive
Non-Volitional Volitional
Invasive
Non-Volitional Volitional
•FRC•VT•VE•fR/VT
•FVC•SNIP•MIP•MEP•PEF•CPF
•Sniff Pes•Sniff Pdi•Pgas cough•TTdi•TTes
•Pdi• Pgas/ Pdi•PTPes•PTPdi•CL dyn
Statistical analysis
Mean + SDMedianRangeDecline in variables for each patient separatelyMean decline in each variable for all patients
Results
Discussion
This is the first study to report the natural evolution of a large number of respiratory parameters.
FVC may be more specific of disease progression from age of 10y
SNIP is very simple, feasible and reproducible to assess inspiratory muscle strength The decrease in SNIP% is very close to the decrease in MIP% SNIP values decline earlier compared to VC
Pgas cough was below normal in all the patients It is also feasible and reproducible to asses expiratory muscle strength
TTdi is useful to monitor the risk of developing diaphragmatic fatigue
The esophageal pressure time product/minute remained within normal values in the majority of patients
The diaphragmatic pressure time product/minute values were higher with a large intra- and inter-subject variability
Respiratory surveillance is an essential component of the care
Early involvement of the expiratory muscles
Sniff and cough are easier tests and interesting
PEF and CPF are simpler but less reliable
FVC and EFV1 are correlated to CPF
None of the non-volitional parameters was informative for the follow up of the disease Except VE
The conclusion: SNIP and FVC are the most informative parameters to follow the
disease progression in DMD
Pgas cough and TTdi are useful to monitor respiratory muscle decline and the risk of muscle fatigue
The monitoring of these parameters should be performed at an early age in order to follow the time course of the respiratory muscle decline
These parameters is helpful to guide therapeutic trials in young patients aiming at slowing disease progression
The main limitations:
Retrospective data collectionLow number of patientsDifficulties in follow up in some patients
Thank you