source: Neuromuscular disorders : NMD

year: 2021

authors: Coratti G,Carmela Pera M,Montes J,Scoto M,Pasternak A,Bovis F,Sframeli M,D'Amico A,Pane M,Albamonte E,Antonaci L,Lia Frongia A,Mizzoni I,Sansone VA,Russo M,Bruno C,Baranello G,Messina S,Dunaway Young S,Glanzman AM,Duong T,de Sanctis R,Stacy Mazzone E,Milev E,Rohwer A,Civitello M,Darras BT,Bertini E,Day J,Muntoni F,De Vivo DC,Finkel RS,Mercuri E

The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.79 points. The difference between baseline and 24 months was significant in type II but not in type III patients. There was also a difference among functional subgroups but not in relation to age. Most patients had 24-month mean changes within 2 points, with 23% decreasing more than 2 points and 7% improving by >2 points. Our results suggest an overall progressive decline in upper limb function over 24 months. The negative changes were most notable in type II, in non-ambulant type III and with a different pattern of progression, also in non-sitter type II. In contrast, ambulant type III showed relative stability within the 24-month follow up. These findings will help in the interpretation of the real world data collected following the availability of new therapeutic approaches.

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