TORNA ALL’ELENCO

Five-year follow-up study and new predictors in disease progression for facioscapolohumeral muscular dystrophy in Acta Myologica

2019
ASL Vercelli

Tipo pubblicazione

Conference Abstract

Autori/Collaboratori (26)Vedi tutti...

Vercelli L
Department of Neurosciences Rita Levi Montalcini, University of Turin, Italy
Mele F
Department of Life Sciences, University of Modena and Reggio Emilia, Italy
Tripodi S
Department of Neurosciences, University of Padua, Italy

et alii...

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder in which the classical phenotype is characterized by a progressive muscular weakness, involving facial, shoulder and upper arms muscle; the molecular feature is a contraction in D4Z4 repeat element on chromosome 4. Currently, approved treatments are unknown and disease natural history is missing and it is crucial defining modifying outcome measure in prevision of future therapeutic clinical trials. The main aim of our study is evaluating disease progression within a 5-years time period in a cohort of 246 subjects from the Italian National Registry for FSHD. Patients, all genetically confirmed, were underwent to the same protocol including clinical evaluation using FSHD Clinical Score for functional impairment, Medical Research Council (MRC) for muscle strength examination and in the second evaluation the CCEF (Comprehensive Clinical Evaluation Form), a recent published tool in which FSHD patients are divided in different subcategories according to the affected districts. Study population was divided in index case and relatives and we extrapolated the Delta FSHD Score (?FSHD score) between first and second control. In our follow-up study 141 index cases and 105 relatives were admitted. 38.2% of subjects did not show progression of disability; 64.9% with mild or no disability (FSHD scores 0-2) at baseline maintained the same FSHD score; a baseline FSHD score ? 3 was associated with a more rapid progression, with 80% of patients increasing the FSHD score (?FSHD score ? 1). Disease progression is rapidly in index cases compared to relatives (?FSHD score 2.3 versus 1.2) while gender effect did not observed. According MRC examination, tibialis anterior muscle was significantly more affected muscle with difference between probands and relatives (35.5% of index cases versus 4.8% relatives with MRC ? 3/5). A category (which consists in the complete phenotype with affected facial and shoulder

Keywords

adult; clinical evaluation; cohort analysis; conference abstract; controlled study; deterioration; disability; disease exacerbation; face; facioscapulohumeral muscular dystrophy; female; follow up; functional disease; gender; genetic background; human; major clinical study; male; medical research; muscle weakness; phenotype; relative; shoulder girdle; tibialis anterior muscle;