Abstract
ObjectivesEnzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far.MethodsWe studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire). We performed a whole body muscle MRI using T1w and 3-point Dixon imaging centered on thighs and lower trunk region.ResultsT1w whole body muscle MRI showed a homogeneous pattern of muscle involvement that could also be found in pre-symptomatic individuals. We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies. Moreover, muscle MRI detected mild degree of fatty replacement in paraspinal muscles in pre-symptomatic patients.ConclusionBased on our findings, we consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment.Take home messageMuscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic.
Highlights
Childhood/adult onset Pompe disease (AOPD) is a genetic disorder caused by mutations in the GAA gene leading to a deficiency of the enzyme acid α-glucosidase[1]
We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies
We consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment
Summary
Childhood/adult onset Pompe disease (AOPD) is a genetic disorder caused by mutations in the GAA gene leading to a deficiency of the enzyme acid α-glucosidase[1]. This enzyme degrades glycogen inside the lysosomes. AOPD patients may have different clinical presentations, such as asymptomatic hyperCKemia, slowly progressive limb girdle weakness and respiratory insufficiency secondary to respiratory muscle weakness[3]. Clinical guides suggest that muscle MRI could be useful to follow progression of the disease in treated patients or to monitor signs of muscle deterioration in patients with asymptomatic hyperCKemia, anticipating the onset of their treatment[9,10,11]
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