Quick Clinical Outcome Assessments

ABSTRACT

The Covid-19 pandemic has highlighted the diffi- culty in the management of neuromuscular patients and the need for continued implementation of the standard of care. With the new pandemia psychometrically robust but quick outcome measures are needed to monitor patients' clinical status. The slow progressive nature of several muscle disorders and the wide pattern of involvement in muscular dystrophies and myopathies make it difficult to establish the prognosis, predict clinical evolution and perform trials and define the impact of natural history, and use new therapies that are becoming available. We constructed a motor function test that is easy and quick to use. This quick Motor Function test Gait, Stair, Gower's, Chair (GSGC) was constructed based on the clinical expertise of several physicians involved in the care of DMD;LGMD, and Pompe patients. The GSGC score can be integrated by the use of the motor function of the upper motor limbs with the arm function test (GSGCA). It consists of a simple standardized functional test which grades the ability of the patient to raise their upper arms over the head. Grade 0 corresponds to a full circle of arm abduction, while with grade 6 the patients cannot raise their arms to their mouth and effectively use their hands. The Gardner-Medwin Walton (GMW) scale even modifi ed appears in comparison rather insensitive. The GSGC test includes 4 items. The test provides a detailed picture of motor function by including a quantitative measure of four performances i.e. time to perform four activities Gait =walking for 10 meters, S=climbing 4 steps on a Stair, G= Gower's maneuver, C= rising from a Chair (Figure) The GSGC final score is obtained by adding the grades of the four functional tests and ranges from a minimum of 4 (normal performance) to a maximum of 27 (worst performance).GSGCA test includes 5 tests (total score from 5 to 32). Validity and test reliability were determined in a cohort of 9 adult Pompe patients (15 to 54 years of age) and then validated in 40 LOPD cases by a collaborative group. The responsiveness of the GSGCA scale to changes in clinical course over time was examined in a subgroup of 13 LGMD 2B/R2 untreated patients. Interrater and intrarater reliabilities were most usually confirmatory. The motor outcomes are different in various myopathies and depend on a correct diagnosis, while exercise in myopathy patients should be moderate, but not necessarily discouraged. The muscle MRI imaging might be helpful for follow-up of the proximal or distal muscle involvement, to detect fat, and connective tissue replacement, which might be usually absent in metabolic myopathies, except for LOPD. Diet and exercise in LOPD might be an additional therapeutic option synergistic to ERT. In this presentation, we examine the use of the GSGC scale in LOPD, DMD, and GSGCA scales in the natural history of LGMD R2. The development of smart care using telemedicine and eHealth technologies to share images, clinical data, reports, and video meetings of collaborative groups should be implemented. Keywords GSGC scale, Covid-19, DMD, LGMD, Pompe.