Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The goal of this study was to quantify the two-dimensional kinematics of pathologic gait during over-ground walking at a self-selected speed at the stifle (knee) and hock (ankle) joints in six Golden Retriever Muscular Dystrophy (GRMD) dogs and six carrier littermates (controls). We found that GRMD dogs walked significantly slower than controls (p<0.01). At the stifle joint, both groups displayed similar ROM (range of motion), but compared to controls, GRMD dogs walked with the stifle joint relatively more extended. At the hock joint, GRMD dogs displayed less ROM (range of motion) and walked with the joint relatively less flexed compared to controls. We controlled for gait speed in all analyses, so the differences we observed in joint kinematics between groups cannot be attributed solely to the slower walking speed of the GRMD dogs. This is the first kinematic study of gait in the GRMD dog, an important step in using this model in pre-clinical trials.
 ...
PMID:Kinematics of gait in golden retriever muscular dystrophy. 1993 18

Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials. For this cross-sectional study, 42 participants were assessed over the same 2-5 day period at the National Institutes of Health Clinical Center. All upper extremity measures were correlated with the Motor Function Measure 32 (MFM32). The battery of upper extremity assessments included the Jebsen Taylor Hand Function Test, Quality of Upper Extremity Skills Test (QUEST), hand held dynamometry, goniometry, and MyoSet Tools. Spearman Rho was used for correlations to the MFM32. Pearson was performed to correlate the Jebsen, QUEST, hand-held dynamometry, goniometry and the MyoSet Tools. Correlations were considered significant at the 0.01 level (2-tailed). Significant correlations were found between both the MFM32 and MFM Dimension 3 only (Distal Motor function) and the Jebsen, QUEST, MyoGrip and MyoPinch, elbow flexion/extension ROM and myometry. Additional correlations between the assessments are reported. The Jebsen, the Grasp and Dissociated Movements domains of the QUEST, the MyoGrip and the MyoPinch tools, as well as elbow ROM and myometry were determined to be valid and feasible in this population, provided variation in test items, and assessed a range of difficulty in CMD. To move forward, it will be of utmost importance to determine whether these upper extremity measures are reproducible and sensitive to change over time.
 ...
PMID:Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 2808 21