P2.59 Lumbossacral paravertebral muscle MRI evaluation in dysferlinopathies

Abstract

Dysferlinopathies are autosomal recessive muscular dystrophies secondary to mutations in the DYSF. Phenotypic expression can vary from assymptomatic HyperCKemias, Myioshy myopathy, LGMD2B, and other rarer presentations. Recently it has been reported that lumbossacral paravertebral muscles can also be early affected. To present the lumbossacral paravertebral, pelvic, girdle, thigh and leg muscle MRI and correlate lumbossacral paravertebral muscle findings with clinical findings in adult dysferlinopathy patients. The clinical, pathological and genetic findings of the patients with a dysferlinopathy were analysed. Lumbossacral, pelvic girdle, thigh and leg muscle MRI (1.5 Tesla) was performed. Dysferlinopathy diagnosis was made in 16 patients and MRI evaluation was done in 12. One patient had assymptomatic hyperCKemia, 1 had distal anterior compartment myopathy, 2 a Myioshy myopathy and 8 a LGMD2B. Parental consanguinity was reported in 7 patients. Their actual mean age is 46.4 years (28–75 years) and the mean age of first symptoms was 29.8 years (16–69 years). The mean time from first symptoms to genetic diagnosis was 11.5 years (3–43 years). Two are wheelchair bound. The mean CK value was 4717 UI/l. Genetic results revealed homozygous mutations in 7 patients, compound heterozygous mutations in 4 patients and a single pathogenic mutation was found in 1 patient. Muscle MRI revealed lumbossacral muscle adipose infiltration in 11 patients, slight in 2 patients and severe in 9. The patient with no lesion of the lumbossacral muscles is a symptomatic patient with a proximo-distal form of disease. One of the patients with slight degeneration of lumbossacral muscles is assymptomatic and the other is pauci-symptomatic. This study shows that lumbossacral muscles are affected in all stages and phenotypes of dysferlinopathy patients. Muscle MRI of the other segments will be discussed.