Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy

Résumé fourni par la source

Background and Objectives: pathogenic variants or deletions. More than half of non-5q SMA cases remain genetically unresolved, and muscle MRI may reveal characteristic patterns supporting diagnosis. Methods: We retrospectively analyzed multicenter data from adults presenting with chronic, progressive, motor-predominant weakness, beginning proximally in the upper or lower limbs, with exclusive or predominant motor involvement on nerve conduction studies and neurogenic changes on EMG. Whole-body MRI was qualitatively graded (Mercuri scale, 42 paired muscles) and quantitatively analyzed in the lower limbs. Results: -related SMA, patterns of muscle involvement were heterogeneous, but the sternocleidomastoid was severely affected in 2 of 4 patients, whereas this muscle remained unaffected in all other cohort members. Discussion: -related SMA. However, confirmation in larger cohorts is needed, although this is constrained by the rarity of these disorders.

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