title: Mitochondrial disease in adults: A scale to monitor progression and treatment Development and validation of a muscular dystrophy-specific functional rating scale [Validity of the motor function measurement scale when routinely used in the follow-up of adult outpatients in a neuromuscular center]. Development of a methodological PubMed search filter for finding studies on measurement properties of measurement instruments Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy. Clinical trial in Duchenne dystrophy. I. The design of the protocol. High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study Clinical trials in Duchenne dystrophy. Standardization and reliability of evaluation procedures. A randomized trial of coenzyme Q10 in mitochondrial disorders. A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Results and long-term followup of intravenous immunoglobulin infusions in chronic, refractory polymyositis: an open study with thirty-five adult patients.
abstract: The natural history of mitochondrial diseases is poorly understood , limiting our ability to offer prognostic advice to patients or to evaluate therapy . One major obstacle to improving our underst and ing is the lack of a clinical rating scale to monitor the extensive clinical spectrum of mitochondrial disease . In this article , the authors describe the development and validation of a practical and semiquantitative rating scale , the Newcastle Mitochondrial Disease Adult Scale . Objective : To develop a reliable and valid new rating scale for measuring the functional impact of muscular dystrophy . Design : Prospect i ve and longitudinal investigation . Setting : Three academic medical centres in Taiwan and the Muscular Dystrophy Association of Taiwan . Measures : The Brooke Scale , the Vignos Scale , the Barthel Index , muscular strength , contracture severity , and predicted forced vital capacity ( FVC% ) . Methods : Scale development was in three stages . In stage I , a preliminary pool of 53 items was generated from patient interviews ( n-/25 ) , literature review , existing functional rating scales and expert opinion . In stage II , these items were administered to 85 patients with muscular dystrophy . The result ing data were analysed to construct a rating scale ( the Muscular Dystrophy Functional Rating Scale , MDFRS ) that encompassed four unidimensional constructs : mobility , basic activities of daily living , arm function and impairment . In stage III , the measurement properties of this rating scale were assessed in 121 muscular dystrophy patients different from those examined with the preliminary instrument . Results : Internal consistency reliability was excellent for all domains of the final 33-item scale , with values of Cronbach ’s alpha ranging from 0.84 to 0.97 . Intraclass correlation coefficients for test-retest and inter-rater reliability were 0.99 for all domains of the MDFRS . The MDFRS showed moderate to high correlations with a range of functional rating scales measuring similar aspects and impairment parameters ( Spearman ’s rho=0.65 - 0.91 ; P<0.001 , each ) . Confirmatory factor analysis supported a unitary construct of the four-dimensional MDFRS . The MDFRS had small floor and ceiling effects in the study sample s. Sensitivity to change was confirmed by large st and ardized response means for the MDFRS total score . Conclusions : The MDFRS is a reliable and valid disease-specific measure of functional status for patients with muscular dystrophy INTRODUCTION The Motor Function Measure ( MFM ) is widely used to assess severity and progression of neuromuscular diseases . Validity was established in a group of patients aged 6 - 60 years with suspected or confirmed diagnosis of neuromuscular diseases , Duchenne Muscular Dystrophy being the most frequent diagnosis in the population tested . OBJECTIVES Our aim was to check the validity of the MFM in a hospital department specialized in neuromuscular diseases in the follow-up of adult out- patients presenting a myopathy , such population being very different from the MFM validation group in terms of age and sub-groups of myopathy . METHODS One hundred patients were r and omly selected in the Reference Center for Neuromuscular Diseases of Nice ( France ) between 2005 and 2007 . Were collected : the  MFM score , manual muscular testing ( MMT ) of lower and upper limb , face and spine , Brooke and Vignos scores . MFM and its three dimensions D1 ( st and ing position and transfers ) , D2 ( axial and proximal limb motor function ) and D3 ( distal motor function ) were compared to the other scores with the Spearman Correlation Coefficient and the Principal Component Analysis . RESULTS Patients were aged 18 - 78 years . The most frequent diagnoses were Steinert 's Muscular Dystrophy ( DM1 ) and Facio-ScapuloHumeral Dystrophy ( FSHD ) ( 30 % and 29 % ) .  MFM  was significantly correlated to all other scores except for Face MMT . However , Face MMT was correlated to D1 and D2 in DM1 patients and to D2 in FSHD patients . DISCUSSION Our results confirm the validity of the  MFM  in adult patients with muscular diseases . However , the  MFM global score and its three dimensions D1 , D2 and D3 are variously correlated with the facial and axial muscle testing . Therefore , we recommend using separately the three dimensions D1 , D2 , D3 ( rather than the global score ) and , if more accuracy is required , the facial and axial muscle testing Objectives For the measurement of  patient-reported outcomes , such as ( health-related ) quality of life , often many measurement instruments exist that intend to measure the same construct . To facilitate instrument selection , our aim was to develop a highly sensitive search filter for finding studies on measurement properties of measurement instruments in PubMed and a more precise search filter that needs less abstract s to be screened , but at a higher risk of missing relevant studies . Methods A r and om sample of 10,000 PubMed records ( 01 - 01 - 1990 to 31 - 12 - 2006 ) was used as a gold st and ard . Studies on measurement properties were identified using an exclusion filter and h and search ing . Search terms were selected from the relevant records in the gold st and ard as well as from 100 systematic review s of measurement properties and combined based on sensitivity and precision . The performance of the filters was tested in the gold st and ard as well as in two validation sets , by calculating sensitivity , precision , specificity , and number needed to read . Results We identified 116 studies on measurement properties in the gold st and ard . The sensitive search filter was able to retrieve 113 of these 116 studies ( sensitivity 97.4 % , precision 4.4 % ) . The precise search filter had a sensitivity of 93.1 % and a precision of 9.4 % . Both filters performed very well in the validation sets . Conclusion The use of these search filters will contribute to evidence -based selection of measurement instruments in all medical fields STUDY OBJECTIVES The purpose was to investigate a possible relationship between different parameters of physical function , spirometric measurements , and the approaching need for mechanical ventilation . DESIGN A nonr and omized , prospect i ve , descriptive study of 11 patients with spinal muscular atrophy type II ( SMA-II ) and 14 patients with Duchenne muscular dystrophy ( DMD ) . At a home visit , the anthropometric indices of age , height , and weight were recorded , the degree of disability was scored , and measurement of the strength of eight muscle groups and spirometry was performed . The interdependence of the variables was analyzed and the intergroup differences evaluated . Eighteen months later , it was found that one of the authors ( B.J. ) , who was blind to the results of the first examination had instituted home mechanical ventilation on seven of the patients . The data were analyzed retrospectively for their predictive value as indicators of approaching ventilator dependency . RESULTS The seven patients who needed mechanical ventilation were the patients with DMD with the highest disability score ( Egen Klassifikation [ EK ] sum > 20 ) and the smallest values for FVC < 1.2 L ( FVC% < 30 ) . We found a significant correlation ( p = 0.002 ) between FVC% and the EK sum at the first examination and between the FVC% and the time until treatment with mechanical ventilation  was instituted ( p = 0.023 ) . Although 7 of the 11 patients with SMA type II had FVC below 1.2 L and some of them had an EK sum score higher ( indicating more disability ) than some patients with DMD who needed mechanical ventilation , none of them required mechanical ventilation . CONCLUSION In this investigation , a combination of EK sum and FVC% provided a better indication of the approaching need for mechanical ventilation in the patients with DMD than the variables separately Therapeutic trials in muscular dystrophy have often been inconclusive . A protocol has been design ed which selects patients with Duchenne muscular dystrophy and permits accurate measurement of their status . An integral part of the protocol is a system for checking on the consistency of the data obtained using a computer program Abstract Sporadic inclusion body myositis ( s-IBM ) is an acquired inflammatory muscle disease of unknown cause . In general , s-IBM presents with slowly progressive , asymmetric weakness , and atrophy of skeletal muscle . There is a mild transitory or nil responsiveness to st and ard immunosuppressive treatment . A controlled cross-over study of ¶22 s-IBM patients over 3 months showed a partial improvement in those treated with high-dose intravenous immunoglobulin therapy ( IVIG ) versus placebo . The present study included 22 patients aged 32–75 years and with a mean duration of disease of 5.2 ± 3.6 years . They were r and omized by a double-blind , placebo-controlled , cross-over design to monthly infusions of ¶2 g/kg bodyweight IVIG or to placebo for 6 months each , followed by the alternative treatment . After 6 and 12 months the response to treatment was evaluated , using a modified Medical Research Council scale , Neuromuscular Symptom Score ( NSS ) , the patient ’s own assessment of improvement , arm outstretched time , and electromyography . No serious side effects were seen , in particular no viral infection and no major cardiac or neurological complications . Overall there was no progression of the disease in 90 % of patients , unlike that which might have been expected in untreated patients . A mild and significant improvement ( 11 % ) in clinical symptoms was found using NSS , but not with other test procedures . There was a trend to mild improvement in treated patients when using other tests . Individual responses to treatment was heterogeneous . The validity of this study may be reduced by mismatch of groups with regard to age at onset and variability in disease expression . The findings of this study largely confirm those of a previous IVIG trial . Treatment with IVIG may be mildly effective in s-IBM by preventing disease progression or inducing mild improvement . Long-term studies are needed to evaluate further the benefit of IVIG therapy in s-IBM A multiclinic , collaborative study has been design ed to assess the natural progression and efficacy of treatment of Duchenne muscular dystrophy . This article describes the protocol for the evaluation technique and the method used to establish within ( intraobserver ) and between ( interobserver ) reliability of the protocol evaluation procedures .  St and ardized patient evaluations  were used , and consistency of evaluation was monitored by a computer . The reliability of the measures was analyzed 1 ) within observers by comparing the results of each of the first three tests done by each evaluator for all patients and 2 ) between observers by comparing , at multicenter group meetings , the results of each of the four evaluators ' tests of the same patient . We have demonstrated reliability for an evaluation method that will provide an objective foundation on which to cl aim a drug or therapeutic procedure does or does not have an effect in treating Duchenne muscular dystrophy Case reports and open-label studies suggest that coenzyme Q(10 ) ( CoQ(10 ) ) treatment may have beneficial effects in mitochondrial disease patients ; however , controlled trials are warranted to clinical ly prove its effectiveness . Thirty patients with mitochondrial cytopathy received 1200 mg/day CoQ(10 ) for 60 days in a r and omized , double-blind , cross-over trial . Blood lactate , urinary markers of oxidative stress , body composition , activities of daily living , quality of life , forearm h and grip strength and oxygen desaturation , cycle exercise cardiorespiratory variables , and brain metabolites were measured . CoQ(10 ) treatment attenuated the rise in lactate after cycle ergometry , increased ( ∽1.93 ml ) VO(2)/kg lean mass after 5 minutes of cycling ( P < 0.005 ) , and decreased gray matter choline-containing compounds ( P < 0.05 ) . Sixty days of moderate- to high-dose CoQ(10 ) treatment had minor effects on cycle exercise aerobic capacity and post-exercise lactate but did not affect other clinical ly relevant variables such as strength or resting lactate Fatigue in patients with mitochondrial cytopathies is associated with decreased basal and postactivity muscle phosphocreatine ( PCr ) . Creatine monohydrate supplementation has been shown to increase muscle PCr and high-intensity power output in healthy subjects . We studied the effects of creatine monohydrate administration ( 5 g PO b.i.d . x 14 days -- > 2 g PO b.i.d . x 7 days ) in 7 mitochondrial cytopathy patients using a r and omized , crossover design . Measurements included : activities of daily living ( visual analog scale ) ; ischemic isometric h and grip strength ( 1 min ) ; basal and postischemic exercise lactate ; evoked and voluntary contraction strength of the dorsiflexors ; nonischemic , isometric , dorsiflexion torque ( NIDFT , 2 min ) ; and aerobic cycle ergometry with pre- and post-lactate measurements .  Creatine treatment result ed in significantly ( P < 0.05 ) increased h and grip strength , NIDFT , and postexercise lactate , with no changes in the other measured variables . We concluded that creatine monohydrate increased the strength of high-intensity anaerobic and aerobic type activities in patients with mitochondrial cytopathies but had no apparent effects upon lower intensity aerobic activities OBJECTIVE Polymyositis is a rare inflammatory muscular disease of unknown cause . Corticosteroids and immunosuppressive drugs are the first choice of therapy but are not always effective and may cause serious side effects . Many studies have shown that polyvalent intravenous immunoglobulin ( IVIG ) may be of interest for the treatment of dermatomyositis . We carried out an open , prospect i ve study to evaluate the efficacy of IVIG in subjects with polymyositis that was refractory to traditional treatments , and we evaluated the benefits of this therapy over a long-term period of followup . METHODS Thirty-five adult white patients ( 20 female , 15 male , mean age 43.5 years [ SD 16.8 ] ) with chronic , refractory polymyositis were treated with high doses of IVIG , after the patients had received the following traditional treatments : prednisone ( n = 35 ) , methotrexate ( n = 24 ) , azathioprine ( n = 13 ) , cyclophosphamide ( n = 4 ) , cyclosporine ( n = 7 ) , chlorambucil ( n = 1 ) , plasmapheresis ( n = 8) , lymphopheresis ( n = 1 ) , and total body irradiation ( n = 1 ) . There had been no changes in the patients ' treatment in the 2 months before the initiation of IVIG therapy , and doses were not increased during IVIG treatment . We used preparations of polyvalent human IVIG with increased concentrations of intact IgG. The patients received 1 gm/kg/day for 2 consecutive days per month . The mean course of treatment was 4 - 6 months . The clinical assessment involved the evaluation of proximal muscle power , muscle disability scale score , and esophageal disorders . The biochemical evaluations carried out before each treatment period were compared by Student 's t-test and nonparametric Wilcoxon test . Results were considered to be significant at P = 0.05 . RESULTS In the short-term , significant clinical improvement was noted in 25 of the 35 patients ( 71.4 % ) . Mean muscle power was estimated before and after IVIG therapy and was found to be significantly improved ( P < 0.01 ) . All patients had a significant biochemical response . Mean creatine kinase levels during IVIG therapy decreased significantly before the fourth IVIG perfusion ( P < 0.01 ) . Side effects , usually minor , were noted in 6 patients . This benefit allowed the initial prednisone dose to be reduced by > 50 % in all patients . The mean ( + /- SD ) followup time for the 25 patients who responded favorably to IVIG treatment was 51.4 + /- 13.1 months . Twelve of these 25 patients remained in full remission following their initial course of IVIG , result ing in complete stoppage of medication in 5 patients or low doses of steroids in 7 patients . The condition of 6 patients remained improved and no other drugs were prescribed , but the patients remained dependent on IVIG infusions . Seven of the 25 patients who responded well to IVIG treatment relapsed at an average of 17.1 months ( range 4 - 23 months ) after the discontinuation of IVIG . CONCLUSION IVIG is an interesting therapy for the treatment of polymyositis , with results showing that the condition of approximately 70 % of the patients tested improved . After the discontinuation of the IVIG therapy , the efficacy remained stable in 50 % of the patients , with a followup of over 3 years
target: RESULTS We found that none of the 19 instruments have sufficiently comprehensive reporting of measurement or feasibility performance as would be required by regulatory authorities .
background: INTRODUCTION In an accompanying study we reported on the content of several activity rating scales that have been used for muscle disease .
  To further aid in achieving consensus we conducted a systematic review to assess the quality of the 19 activity rating scales  design ed specifically for muscle disease .