Giulia Ricci1,2, Philip Cammish2, Gabriele Siciliano2, Rossella Tupler3, Hanns Lochmuller4, Teresinha Evangelista2. 1. John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. 2. Department of Clinical and Experimental Medicine, University of Pisa, via Roma 67 56126, Pisa, Italy. 3. Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. 4. Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Abstract
INTRODUCTION: The correct phenotypic classification of patients with facioscapulohumeral muscular dystrophy (FSHD) is crucial for directing genetic diagnosis and for the definition of outcome measures in clinical trials. METHODS: Our objective was to ascertain the utility of the Comprehensive Clinical Evaluation Form (CCEF), the clinical classification proposed by the Italian Clinical Network for FSHD, in an independent FSHD patient population from the UK FSHD Patient Registry. We subdivided the patients into group 1, classic FSHD phenotype/category A of CCEF, and group 2, facial sparing phenotypes/category B1 of CCEF. RESULTS: Among 642 patients with FSHD1, 68.1% reported facial and shoulder weakness, whereas 24.1% reported shoulder weakness without facial impairment. The phenotype in group 2 was milder, with a higher mean age at onset (P < 0.0001) and less severe motor disability. DISCUSSION: Patients with different FSHD phenotypes may have different disease courses. Muscle Nerve 59:711-713, 2019.
INTRODUCTION: The correct phenotypic classification of patients with facioscapulohumeral muscular dystrophy (FSHD) is crucial for directing genetic diagnosis and for the definition of outcome measures in clinical trials. METHODS: Our objective was to ascertain the utility of the Comprehensive Clinical Evaluation Form (CCEF), the clinical classification proposed by the Italian Clinical Network for FSHD, in an independent FSHDpatient population from the UK FSHDPatient Registry. We subdivided the patients into group 1, classic FSHD phenotype/category A of CCEF, and group 2, facial sparing phenotypes/category B1 of CCEF. RESULTS: Among 642 patients with FSHD1, 68.1% reported facial and shoulder weakness, whereas 24.1% reported shoulder weakness without facial impairment. The phenotype in group 2 was milder, with a higher mean age at onset (P < 0.0001) and less severe motor disability. DISCUSSION: Patients with different FSHD phenotypes may have different disease courses. Muscle Nerve 59:711-713, 2019.
Authors: T G J Loonen; C G C Horlings; S C C Vincenten; C H G Beurskens; S Knuijt; G W A M Padberg; J M Statland; N C Voermans; T J J Maal; B G M van Engelen; K Mul Journal: J Neurol Date: 2020-10-28 Impact factor: 4.849