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Abstract: Aims: Our objective was to clarify the clinical heterogeneity in Duchenne muscular dystrophy (DMD). Methods: The French dystrophinopathy database provided clinical, histochemical and molecular data of 278 DMD patients (mean longitudinal follow-up: 14.2 years). Diagnosis was based on mutation identification in the DMD gene. Three groups were defined according to the age at ambulation loss: before 8 years (group A); between 8 and 11 years (group B); between 11 and 16 years (group C). Results: Motor and respiratory declines were statistically different between the three groups, as opposed to heart involvement. When acquired, running ability was lost at the mean age of 5.41 (group A), 7.11 (group B), 9.19 (group C) years; climbing stairs ability at 6.24 (group A), 7.99 (group B), 10,42 (group C) years, and ambulation at 7.10 (group A), 9.25 (group B), 12.01 (group C) years. Pulmonary growth stopped at 10.26 (group A), 12.45 (group B), 14.58 (group C) years. Then, forced vital capacity decreased at the rate of 8.83 (group A), 7.52 (group B), 6.03 (group C) percent per year. Phenotypic variability did not rely on specific mutational spectrum. Conclusion: Beside the most common form of DMD (group B), we provide detailed description on two extreme clinical subgroups: a severe one (group A) characterized by early severe motor and respiratory decline and a milder subgroup (group C). Compared to group B or C, four to six times fewer patients from group A are needed to detect the same decrease in disease progression in a clinical trial. [Copyright &y& Elsevier]

Aim To assess changes in motor function in patients with Duchenne muscular dystrophy using the Motor Function Measure (MFM). Method Three studies were performed. Two studies included only physiotherapy-treated patients, with 13 patients (males mean age 11y 7mo, SD 1y 10mo, range 8–14y) in the 3-month study and 41 patients (males mean age 14y 1mo, SD 5y 5mo, range 6–32y) in the 1-year study. A third study compared 12 patients treated with steroids with 12 age- and motor-function-matched untreated patients (males mean age of treated patients 10y 2mo, SD 2y 2mo range 6–14) over a 12-month period. Results Over 3 months, the MFM D1 subscore (standing and transfers) decreased significantly (−4.7%; p<0.01). Over 1 year, all MFM subscores decreased significantly: −4.9% for D1 ( p<0.01); −7.7% for D2 (axial and proximal motor capacity; p<0.01); −4.3% for D3 (distal motor capacity; p=0.03); and −5.8% for the total score ( p<0.01). A threshold value for loss of ambulation and a predictive value 1 year before loss were estimated (total score 70% and D1 subscore 40%). Compared with the controls, patients treated with steroids had more stable total scores (−0.59 vs −5.87; p=0.02) and D2 subscores (0.98 vs −8.50; p<0.01). Interpretation These results support the use of the MFM in everyday patient management to prepare for loss of ambulation and in clinical trials to follow up patients receiving various treatments. [ABSTRACT FROM AUTHOR]

Objective To assess the applicability and the responsiveness of the motor function measure 1 (MFM) in a facio scapulo humeral dystrophy (FSHD) population. Materials/patients and methods It is an observational, retrospective and multicenter, cohort study. MFM data came from the MFM database (see http://www.motor-function-measure.org/data-bank.aspx ). Only FSHD patients with at least one MFM-32 were included. The distributions of the MFM scores (total score and MFM D1, D2 and D3 subscores) were analyzed by age. MFM responsiveness was estimated in patients with at least two MFMs (at least six months between the two evaluations). Hypothetical sample sizes for specific effect sizes in clinical trial scenarios are given. Results The descriptive study includes 269 patients aged 6.1–82.8 years (145 males/124 females) from 26 physical medicine and rehabilitation or neurology departments. 467 MFM-32 for FSHD patients are registered in the MFM database and 117 patients have a least two evaluations registered. 393 MFM were realized in adults’ patients (> 18 years old). Mean age of first signs was 24.5 years ± 15.9 (available for 124 patients). MFM D1 subscore (standing and transfers) is the more sensitive score to show deterioration (–2.75 points + –4.3/year). MFM D2 (proximal and axial motricity) and D3 (distal motricity) subscores showed less changes over time (–0.98 + –3.27 points/year for D2, –0.81 + –4.07 points/year for D3). Significant responsiveness was obtained with the D1 subscore (standardized response mean [SRM] = 0.640). Discussion/Conclusion MFM scale and particular D1 subscore is a reliable and valid outcome measure to applied in longitudinal follow-up and in clinical trials address to FSHD population. [ABSTRACT FROM AUTHOR]