Abstract Details

Title Quantitative Muscle MRI and Functional Measures in a Cohort of Late Onset GSDII Patients

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P07 - (-)

Poster/Presentation
Number 027

Objective

Background BACKGROUND: Adult onset GSDII presents a great variability in clinical features and rate of progression. Three main clinical presentations have been observed; a myopathy with limb girdle muscle involvement (LGMD), asymptomatic hyperCKemia (HCK), and respiratory muscles involvement preceding limb muscular weakness. Few data are available about MRI pattern and follow up in such patients.

Design/Methods DESIGN/METHODS: 12 patients with late onset GSDII were recruited before starting enzyme replacement treatment and divided in three cohorts based on clinical presentation (limb girdle involvement, isolated hyperckemia or respiratory insufficiency). Clinical assessment included Walton scale 6MWT, GSGC, FVC% and MRC score. Muscle MRI protocol was performed using the dual-echo dual-flip angle spoiled gradient recalled which allows to accurately quantify and display the muscle fat fraction (MFF). We evaluated the MFF of lower girdle, paraspinal, abdominal and respiratory muscles in 12 ambulant late onset Pompe disease patients. Statistic correlations were performed by rho Spearman test.

Results RESULTS: MFF of the lower girdle muscles was correlated with functional muscle measures such a 6MWT, GSGC, MRC. In particular we found a positive correlation with ileopsoas and gluteus muscles. Moreover, we found a statistically significant correlation between degree of diaphragm atrophy and pulmonary dysfunction especially in upright position.

Conclusions CONCLUSIONS: In the present study we demonstrate that MFF, obtained with this MRI technique, presents a good correlation with different clinical data that are currently used as functional measures. Our data suggested that muscle MRI study could be a useful tool to evaluate the muscle impairment even the early stages.

Authors/Disclosures
Emanuele Barca, MD, PhD (Columbia University) PRESENTER	Dr. Barca has nothing to disclose.
Olimpia Musumeci	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file

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