Section 1: The evaluation form | Section 2: FSHD evaluation scale and FSHD clinical score | Section 3: Clinical diagnostic form | Section 4: Clinical category assessment |
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Evaluation form collects several information and is subdivided in three part: Part A Investigates the subject’s clinical history Part B Evaluates the patient’s disability (neurological examination) Part C Assesses muscle segmental involvement using the Medical Research Council (MRC) scale | Evaluation scale allows the computation of the FSHD SCORE which is based on the regional distribution of muscle weakness and the functionality of muscle groups Five groups of muscles are investigated and evaluated by a specific score: 1 facial muscles (scored from 0 to 2) 2 scapular girdle muscles (scored from 0 to 3) 3 upper limb muscles (scored from 0 to 2) leg muscles (scored from 0 to 2) 4 pelvic girdle muscles (scored from 0 to 5) 5 abdominal muscles (scored from 0 to 1) The FSHD score ranges from 0 to 15 and indicates the severity of the motor impairment | This section established the assessment of typical and atypical features of FSHD An accurate evaluation of these features allows to assign clinical categories | Assignment to each individual one out of four different phenotypic categories: typical FSHD: category A, subcategories A1, A2, A3 incomplete phenotypes: category B, subcategories B1, B2 asymptomatic/healthy subjects: category C, subcategories C1, C2 atypical/complex phenotypes: category D, subcategories D1, D2 |