Year: 2026
Type: article
Study design: Observational Study
Abstract: 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.
Source: Neurology Genetics
Authors: Edouard Berling, Harmen Reyngoudt, Adrien Le Guillou, Jean-Baptiste Noury, Pascal Cintas, Bruno Cadot, Isabelle Ackermann-Bonan, Benjamin Marty, Yves Fromes, Gorka Fernandez-Eulate, Marion Masingue, Anthony Béhin, Guillaume Bassez, Alice Rouyer, Claire Lefeuvre, Pascal Laforet, Guillaume Nicolas, Marina Konyukh, Isabelle Quadrio, Robert Yves Carlier, Tanya Stojkovic
Institutions: Inserm, Université de Versailles Saint-Quentin-en-Yvelines, Assistance Publique – Hôpitaux de Paris, Institut de Myologie, Hôpital Raymond-Poincaré, Emory University, Centre Hospitalier Régional Universitaire de Brest, Centre Hospitalier Universitaire de Toulouse, Hôpital Purpan, Centre de Recherche en Myologie, Sorbonne Université, Pitié-Salpêtrière Hospital, Centre Hospitalier Universitaire Henri-Mondor, Hôpitaux Universitaires Henri-Mondor, Hospices Civils de Lyon
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W7204222505