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Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy
Author(s) -
Ricci Giulia,
Cammish Philip,
Siciliano Gabriele,
Tupler Rossella,
Lochmuller Hanns,
Evangelista Teresinha
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26474
Subject(s) - facioscapulohumeral muscular dystrophy , medicine , muscular dystrophy , weakness , disease , facial weakness , phenotype , physical medicine and rehabilitation , population , muscle weakness , physical therapy , pediatrics , surgery , genetics , gene , environmental health , biology
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