Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease

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.

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.

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

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.

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.

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

based on patient declaration, absence or presence (with pain scale) and pain localisations

utilisation of technical aid (walking stick, manual or electric wheelchair), or humain for daly life activities

surgical history, capacity to speech

personnal surgical history for each patient