Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

Abstract

Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal muscles of late-onset Pompe disease (LOPD) patients. Previous studies have shown that replacement by fat correlates with worse results of muscle function tests. Our aim was to investigate if fat replacement of muscles involved in the ventilation process correlated with results of the spirometry and predicted respiratory muscle impairment in LOPD patients over time.Materials and Methods: We studied a cohort of 36 LOPD patients followed up annually in our center for a period of 4 years. We quantified muscle fat replacement using Mercuri score of the thoracic paraspinal and abdominal muscles and the pillars of the diaphragm. We correlated the combined Mercuri scores of these areas with spirometry results and the need of respiratory support.Results: We found a statistically significant correlation (Spearman test, p < 0.05; coefficient of correlation > 0.6) between forced vital capacity seated and lying and fat fraction score of all muscle groups studied. The group of patients who needed respiratory support had higher fat fraction scores than patients not requiring ventilatory support. Higher fat replacement in these areas correlated with worse progression in spirometry values over time.Conclusions: Fat replacement of paraspinal, abdominal, and trunk muscles correlates with results of spirometry and is able to predict worsening in respiratory muscle function tests that could lead to an emerging ventilatory dysfunction. Therefore, the identification of fat replacement in these muscle groups should lead to a closer monitorization of patients. Radiologic evaluation of diaphragm pillars in T1-weighted imaging axial sequences could also be helpful to predict respiratory insufficiency.

ER stress aggravates diaphragm weakness through activating PERK/JNK signaling in obesity hypoventilation syndrome

“…In addition, diaphragmatic lipid accumulation was quantified by MRI with proton density fat fraction (MRI‐PDFF). We assessed the lipid content of the diaphragm by analyzing PDFF of the diaphragm pillars (Figure 1C), which are two musculotendinous structures surrounding the anterior lumbar spine [23]. Our data showed that PDFF of the diaphragm was significantly higher in people with obesity than in lean control individuals (cohort 3, n = 18; Figure 1D), indicating the lipid accumulation in the diaphragm of people with obesity.…”

Ultrasonography of abdominal muscles: Differential diagnosis of late-onset Pompe disease and myotonic dystrophy type 1

“…A previous study revealed increased fall risk in patients with more severe involvement of trunk muscles ( 13 ). Trunk muscle involvement has also been found to correlate with negative respiratory outcomes and balance function in LOPD and DM1 ( 10 , 12 ). According to Vill et al, ultrasound could detect muscle abnormality in clinically affected muscles and demonstrated that clinical muscle strength was highly correlated with muscle abnormality in LOPD ( 6 ).…”

“…Poor trunk function may cause an increased falling risk, a decreased daily activity, and decreased upper and lower limb functional movements ( 11 ). In addition, the fat replacement of back, abdominal, and deep trunk muscles have been found to be correlated with poor respiratory function in LOPD ( 12 ). In recent studies, trunk impairment score (TIS) and trunk control test (TCT) have been used to assess static and dynamic trunk muscle function in patients with stroke ( 11 , 13 ).…”

Evaluation of Respiratory Muscle Dysfunction in Patients with Idiopathic Pulmonary Fibrosis: A Prospective Observational Study with Magnetic Resonance Imaging

“…Several studies evaluated diaphragmatic motion with D-MRI in patients with idiopathic scoliosis and neuromuscular diseases [8][9][10][11]. The structure and motion of the diaphragm and chest wall also have been applied to assess health and some chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD) and asthma [12][13][14].…”