An observational study in Diagnosis of Arthrogryposis Amyoplasia or Distal Arthrogryposis, 5 Day Multidisciplinary Evaluation in AMC Clinic of the National Reference Center and With Physical Medecin, Medical Genetic and Imaging Departments at the Hospital Grenoble Alpes, sponsored by University Hospital, Grenoble. Completed at 1 site in France. Open to participants aged 17 Years and older. Per ClinicalTrials.gov, last updated 2021-11-30.
Sponsored by University Hospital, Grenoble · Observational
The aim is to evaluate the correlation of quantified fibro-adipous infiltration of muscles, using the MRI-based Mercuri score, with deficiencies, activity limitations and social participation in patients with arthrogryposis multiplex congenita.
Arthrogryposis multiplex congenita (AMC) refers to a rare disease spectrum characterized by the presence of joint contractures at birth in at least two different body areas. Causes are multiple. Amyoplasia and distal arthrogryposes are the most frequent causes. Phenotypes consist of muscle weakness and atrophy of variant severity and joint deformities. The impact on mobility, activities or daily living and participation is variable (Dai et al, 2018).
Mercuri et al. (Mercuri et al, 2002) have developed a semi-quantitative score to mesure fibro-adipous muscle infiltration on muscle MRI.
Correlations between fibro-adipous infiltration and muscular deficits have already been studied in other neuromusclar diseases such as Pompe disease (Figueroa-Bonaparte et al, 2016) or Duchenne muscular dystrophy (Brogan et al, 2018). These studies revealed good correlation between disease onset, muscle strength and the degree of muscle fibro-adipous infiltration, calculated using the Mercuri score. The authors concluded that muscular MRI can be used to follow the neuromuscular disease progression as it is correlated with muscle function.
Contrary to these progressive diseases, AMC is a congenital non progressive condition. It is therefore tempting to hypothesize that the muscular fibro-adipous infiltration in these patients could be of prognostic value for future capacities.
Our aim is to evaluate the fibro-adipous muscle infiltration in a thoroughly phenotyped cohort of adult patients with Amyoplasia and Distal Arthrogryposes using the Mercuri score, based on muscular MRI, in order to evaluate the correlation with deficiencies, activity limitations and social participation.
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adults with a diagnostic of Amyoplasia or distal arthrogryposis, evaluated by a all body MRI, and functionnal evaluation during day hospitalisation in adult neurorehabilitation department of grenoble, between 2010 and october 2020
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Exclusion Criteria:
patient with diagnosis of Amyoplasia
Other: no intervention
patient with diagnosis of Distal arthrogryposis
Other: no intervention
no intervention
Mercuri Scores of upper limbs, lower limbs,and trunk evaluated on MRI T1
The degree of muscle fat infiltration was assessed with at least 2 visible slices. We used the four-point scale proposed by Mercuri et al 2002. Each muscle was staged as follows: 1. Normal appearance, 2. Mild involvement. 3. Moderate involvement. 4. Severe involvement.
Time frame: during 5 day evaluation
muscle weakness
muscular weakness was assessed by function (flexion, extension etc.) and not by each muscle, using the Medical Research Council scale (0-5) for muscle weakness. The grading was as follows: 0, no contraction; 1, flicker or trace of contraction; 2, active movement possible only with gravity eliminated; 3, active movement against gravity in the whole range of motion; 4, active movement against gravity and resistance; 5, quasi-normal strength.
Time frame: during 5 day evaluation
passive range of motion
passive range of motion evaluated by physiotherapists, The range of motion of each movement (i.e. amplitude) was normalized with respect to the normal maximal movement, expressed as percentages
Time frame: during 5 day evaluation
6 minutes walking test
Mobility was assessed by the 6MWT20, performed by individuals who were asked to walk as self-preferred speed in a straight line on the floor with sequences of 30 meters, with a half-turn at each end. In case of interruption (fatigue, pain, dyspnea), patients were allowed to rest, until they felt able to restart.
Time frame: during 5 day evaluation
reaching score
The ability to reach some body targets with upper limbs was assessed by ad hoc test. Individuals sitting on a chair were instructed to successively touch their mouths, heads, necks, backs, opposite shoulders, ipsilateral shoulders, knees and feet, with both hands. Each successful touch scored two points if easily performed, and one point if performed with difficulty. The total score was calculated on both sides averaged and ranged from 0 to 16 points.
Time frame: during 5 day evaluation
Functionnal independance measure
Designed to assess areas of dysfunction in activities that commonly occur in subjects with any progressive, reversible or stable neurologic, musculoskeletal, or other disorder ie patients with functional mobility impairmentsThe motor subscale includes: Eating, Grooming, Bathing, Dressing, upper body, Dressing, lower body, Toileting, Bladder management, Bowel management, Transfers - bed/chair, wheelchair, Transfers - toilet, Transfers - bath/shower, Walk/wheelchair, Stairs, The cognition subscale includes: Comprehension, Expression, Social interaction, Problem solving, Memory Each item is scored on a 7 point ordinal scale, ranging from a score of 1 to a score of 7. The higher the score, the more independent the patient is in performing the task associated with that item
Time frame: during 5 day evaluation
pain evaluation
based on patient declaration, absence or presence (with pain scale) and pain localisations
Time frame: during 5 day evaluation
activities in daily life
Time frame: during 5 day evaluation
humain and technical aid
utilisation of technical aid (walking stick, manual or electric wheelchair), or humain for daly life activities
Time frame: during 5 day evaluation
respiratory and speech difficulties
surgical history, capacity to speech
Time frame: during 5 day evaluation
surgical history
personnal surgical history for each patient
Time frame: during 5 day evaluation
Plan to share: No
Ran from Dec 2019 to primary completion in Jul 2021, 19 months.
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