Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E

LGMD2E

A retrospective observational study that will enable us to collect retrospective data from the clinical records of LGMD 2E patients in order to highlight any possible correlation between: * clinical variables and patient age, * clinical variables and other clinical variables, * clinical variables and clinical outcomes. The study will help to define the natural history of this rare disease and to ameliorate the management of these patients.

Retrospective observational study. Retrospective data from clinical charts of patients affected by LGMD 2E will be collected after the subscription of informed consent.Data considered will include any clinical variable measured, both objective and subjective. All data obtained will be anonimized before any treatment. Data will be grouped according to the age of the patient, in order to have more data for each age and to gain a trustable description of the disease progression. The possible correlation of each variable to age, to other variables and to objective clinical outcomes will be studied. Clinical outcomes considered will include age of loss of deambulation, age of introduction of respiratory assist, age of introduction of cardiological therapy. Data collected will also be divided in two groups according to different genetic diagnosis in order to evaluate phenotipical differences of genotypical clesses. First group will count all patient with the truncating mutation c.377\_384duplCAGTAGGA in exon 3, both in heterozigosis and in homozigosis Second group will include all the other patients. Both on the global data collection and on data divided according to genotype, statistical analysis will be performed. Those analysis will study linear regression both with the univariate, bivariate and multivariate model.

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