scholarly journals The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and othe

2013 ◽  
Vol 48 (1) ◽  
pp. 55-67 ◽  
Author(s):  
Erik K. Henricson ◽  
R. Ted Abresch ◽  
Avital Cnaan ◽  
Fengming Hu ◽  
Tina Duong ◽  
...  
Keyword(s):  
Natural History ◽  
Disease Progression ◽  
Research Group ◽  
Manual Muscle Testing ◽  
Glucocorticoid Treatment ◽  
Natural History Study ◽  
Muscle Testing

scholarly journals Assessment of disease progression in dysferlinopathy

Neurology ◽  
2019 ◽  
Vol 92 (5) ◽  
pp. e461-e474 ◽  
Author(s):  
Ursula Moore ◽  
Marni Jacobs ◽  
Meredith K. James ◽  
Anna G. Mayhew ◽  
Roberto Fernandez-Torron ◽  
...  
Keyword(s):  
Disease Progression ◽  
Clinical Diagnosis ◽  
Clinical Effectiveness ◽  
Manual Muscle Testing ◽  
Walk Test ◽  
Wrist Flexion ◽  
Pinch Grip ◽  
Muscle Testing ◽  
Domain 3 ◽  
Functional Outcome Measures

ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis.ResultsThe functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint.ConclusionCertain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials.ClinicalTrials.gov identifier:NCT01676077.

scholarly journals Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

2014 ◽  
Vol 50 (2) ◽  
pp. 250-256 ◽  
Author(s):  
Christopher Spurney ◽  
Reiko Shimizu ◽  
Lauren P. Morgenroth ◽  
Hanna Kolski ◽  
Heather Gordish-Dressman ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Natural History ◽  
Research Group ◽  
Diagnosis And Treatment ◽  
Natural History Study

GNE myopathy: A prospective natural history study of disease progression

2014 ◽  
Vol 24 (5) ◽  
pp. 380-386 ◽  
Author(s):  
Madoka Mori-Yoshimura ◽  
Yasushi Oya ◽  
Hiroyuki Yajima ◽  
Naohiro Yonemoto ◽  
Yoko Kobayashi ◽  
...  
Keyword(s):  
Natural History ◽  
Disease Progression ◽  
Natural History Study ◽  
Gne Myopathy

scholarly journals Cellular Transplantation Alters the Disease Progression in Becker’s Muscular Dystrophy

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Alok Sharma ◽  
Amruta Paranjape ◽  
Hemangi Sane ◽  
Khushboo Bhagawanani ◽  
Nandini Gokulchandran ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Strength ◽  
Disease Progression ◽  
Mononuclear Cells ◽  
Cellular Therapy ◽  
Fatty Infiltration ◽  
Functional Independence ◽  
Manual Muscle Testing ◽  
Muscle Degeneration ◽  
Muscle Testing

Becker’s Muscular Dystrophy (BMD) is a dystrophinopathy manifested as progressive muscle degeneration. Autologous Bone Marrow Mononuclear Cells (BMMNCs) have shown some myogenic potential. The paracrine effects of the BMMNCs reduce the inflammation and are thought to reduce muscle degeneration. We treated a 39 year old dental surgeon suffering from BMD. Muscle strength was reduced when measured using modified Medical Research Council’s Manual Muscle Testing (mMRC-MMT). Static sitting balance was poor. He was wheelchair dependent for ambulation and moderately independent in Activities of Daily Living (ADL). Functional Independence Measure (FIM) score was 93. Musculoskeletal Magnetic Resonance Imaging (MRI-MSK) showed moderate fatty infiltration in the muscles. Three cellular transplantations were carried out. Clinical assessment and the investigations were repeated. Progressive increase in the muscle strength was noted. Ambulation was independent using push-knee splints and minimal assistance when weary. Static and dynamic balance in sitting and standing improved. FIM score increased from 93 to 105. There was no increase in the degree of fatty infiltration, as seen on the MRI-MSK. The case study provides evidence for the putative benefits of cellular therapy in altering the disease progression in BMD. It also suggests augmented clinical benefits of combination of cellular therapy and rehabilitation.

scholarly journals Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

2015 ◽  
Vol 77 (4) ◽  
pp. 684-696 ◽  
Author(s):  
Luca Bello ◽  
Akanchha Kesari ◽  
Heather Gordish‐Dressman ◽  
Avital Cnaan ◽  
Lauren P. Morgenroth ◽  
...  
Keyword(s):  
Natural History ◽  
Research Group ◽  
Genetic Modifiers ◽  
Natural History Study

Quick Reference: Chapter 3: The Musculoskeletal System and Chapter 4: The Nervous System

2000 ◽  
Vol 5 (3) ◽  
pp. 4-4
Keyword(s):  
Nervous System ◽  
Lower Extremity ◽  
Musculoskeletal System ◽  
Multistep Method ◽  
Manual Muscle Testing ◽  
Motor Deficits ◽  
Lower Extremity Weakness ◽  
Residual Symptoms ◽  
Muscle Testing ◽  
Almost All

Abstract Lesions of the peripheral nervous system (PNS), whether due to injury or illness, commonly result in residual symptoms and signs and, hence, permanent impairment. The AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Fourth Edition, divides PNS deficits into sensory and motor and includes pain in the former. This article, which regards rating sensory and motor deficits of the lower extremities, is continued from the March/April 2000 issue of The Guides Newsletter. Procedures for rating extremity neural deficits are described in Chapter 3, The Musculoskeletal System, section 3.1k for the upper extremity and sections 3.2k and 3.2l for the lower limb. Sensory deficits and dysesthesia are both disorders of sensation, but the former can be interpreted to mean diminished or absent sensation (hypesthesia or anesthesia) Dysesthesia implies abnormal sensation in the absence of a stimulus or unpleasant sensation elicited by normal touch. Sections 3.2k and 3.2d indicate that almost all partial motor loss in the lower extremity can be rated using Table 39. In addition, Section 4.4b and Table 21 indicate the multistep method used for spinal and some additional nerves and be used alternatively to rate lower extremity weakness in general. Partial motor loss in the lower extremity is rated by manual muscle testing, which is described in the AMA Guides in Section 3.2d.

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