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D1Dimension 1 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).

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ObjectivesBecause X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures.MethodsWe designed an international prospective and longitudinal natural history study in patients with XLMTM and assessed muscle strength and motor and respiratory functions over the first year of follow-up. The humoral immunity against adeno-associated virus serotype 8 was also monitored.ResultsForty-five male patients aged 3.5 months to 56.8 years were enrolled between May 2014 and May 2017. Thirteen patients had a mild phenotype (no ventilation support), 7 had an intermediate phenotype (ventilation support less than 12 hours a day), and 25 had a severe phenotype (ventilation support 12 or more hours a day). Most strength and motor function assessments could be performed even in very weak patients. Motor Function Measure 32 total score, grip and pinch strengths, and forced vital capacity, forced expiratory volume in the first second of exhalation, and peak cough flow measures discriminated the 3 groups of patients. Disease history revealed motor milestone loss in several patients. Longitudinal data on 37 patients showed that the Motor Function Measure 32 total score significantly decreased by 2%. Of the 38 patients evaluated, anti–adeno-associated virus type 8 neutralizing activity was detected in 26% with 2 patients having an inhibitory titer >1:10.ConclusionsOur data confirm that XLMTM is slowly progressive for male survivors regardless of their phenotype and provide outcome validation and natural history data that can support clinical development in this population.ClinicalTrials.gov identifierNCT02057705.

The NM-Score is a reliable, reproducible outcome measure with value in clinical practice and in clinical research for the description of patients and the constitution of uniform patient groups (in terms of motor function).

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Background:Cerebral palsy is a life-long condition that causes heterogeneous motor disorders. Motor rehabilitation interventions must be adapted to the topography of the symptoms, ambulatory capacity and age of the individual. Current guidelines do not differentiate between the different profiles of individuals with cerebral palsy, which limits their implementation.Objectives:To develop evidence-based, implementable guidelines for motor rehabilitation interventions for individuals with cerebral palsy according to the age, topography of the cerebral palsy and ambulatory capacity of the individual, and to determine a level of priority for each intervention.Methods:We used a mixed methods design that combined a systematic review of the literature on available motor rehabilitation interventions with expert opinions. Based on the French National Authority for Health methodology, recommendations were graded as strong, conditional or weak. Interventions were then prioritized by the experts according to both the evidence and their own opinions on relevance and implementability to provide a guide for clinicians. All recommendations were approved by experts who were independent from the working group.Results:Strong recommendations as first-line treatments were made for gait training, physical activities and hand-arm bimanual intensive therapy for all children and adolescents with cerebral palsy. Moderate recommendations were made against passive joint mobilizations, muscle stretching, prolonged stretching with the limb fixed, and neurodevelopmental therapies for all children and adolescents with cerebral palsy. Strong recommendations as first-line treatments were made for gait training for all adults with cerebral palsy and moderate recommendations as moderate importance interventions for strengthening exercises and ankle-foot orthoses for motor impairment of the feet and the ankles.Discussion:These guidelines, which combine research evidence and expert opinion, could help individuals with cerebral palsy and their families to co-determine rehabilitation goals with health professionals, according to their preferences.

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