Trusted Resources: Education
Scientific literature and patient education texts
Revised Upper Limb Module in Type II And III Spinal Muscular Atrophy: 24-Month Changes
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
summary/abstract: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.
organization: Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.DOI: 10.1016/j.nmd.2021.10.009
read more
Related Content
-
Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database AnalysisSpinal muscular atrophy (SMA) is a rare,...
-
Generation of DMBi002-A Human Induced Pluripotent Stem Cell Line From Patient With Spinal Muscular Atrophy Type 3Spinal Muscular Atrophy (SMA) is a genet...
-
Once-Daily Risdiplam Beneficial in Patients With Types 2 and 3 SMA: LancetOnce-Daily Risdiplam is beneficial in pa...
-
Spinal Muscular Atrophy: Types and GeneticsSpinal Muscular Atrophy (SMA)SMA is a ra...
-
SMA Type 2 – Looking After Your Child Who Has Had a Recent DiagnosisOne of the first questions many families...
-
Pediatric Spinal Muscular AtrophyWhat is spinal muscular atrophy (SMA)?Sp...
-
Patient and Caregiver Treatment Preferences in Type 2 and Non-Ambulatory Type 3 Spinal Muscular Atrophy: A Discrete ...Background: Spinal muscular atrophy (SMA...