A 5-year clinical follow-up study from the Italian National Registry for FSHD.

ABSTRACT:

Background

The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined.

Methods

An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score).

Findings

Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular

SUBMITTER: Vercelli L 

PROVIDER: S-EPMC7815626 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature