Abstract Details

Title Limb-girdle Muscular Dystrophies in a Single-center Adult Population: Clinical Spectrum and Genetic Findings

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P8 - Poster Session 8 (11:45 AM-12:45 PM)

Poster/Presentation
Number 9-006

Objective We describe clinical, genetic, and pathological features of a cohort of patients with LGMD followed at Montreal Neurological Institute-Hospital

Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles.

Design/Methods We conducted a retrospective cohort study including 43 patients with LGMD between 2018-2024. Clinical data, muscle pathology features, CK levels, cardiac and respiratory involvement, and genetic findings were collected. Functional status was evaluated using Composite MRC Score and Functional Milestones. Disease progression was assessed longitudinally when data were available

Results A total of 43 patients (median age 50 years (range 20-83) ; 67% females (29/43)) were included, representing 8 LGMD subtypes. The most common subtype was LGMD2L (ANO5 related) accounting for 18% (8/43) of cases. Mean age at symptom onset was 24.6 years, and mean duration of disease was 25 years (2-65y). Pathological data from the biopsies was present in 27/43 patients. Median CK (range) for the cohort was 2737 (from 52 to 10.000). Median severity by MRC sum scale was 47 (20-60). 19 patients required a cane in the history of his condition and 13 patients required wheelchair at a median age of 48 years. 7 patients presented cardiac involvement and 17 respiratory restrictive pattern. Genetic yield was 50% (22 confirmed genetically, 5 negative panel, 8 suspected compound heterozygosity, 6 VUS and 2 pending results). 30% of the patients had an initial alternative diagnostic.

Conclusions

This cohort highlights the clinical and genetic diversity of LGMD. Long delay of diagnosis, frequent initial alternative diagnostic labeling and incomplete genetic diagnostic yield in our LGMD cohort all indicate an unmet need for improved early detection and diagnosis of LGMD patients.

Early diagnosis and multidisciplinary care are essential to optimize management and monitor systemic complications.

Authors/Disclosures
Mayra Aldecoa, MD PRESENTER	Ms. Aldecoa has nothing to disclose.
Pablo Iruzubieta, MD, PhD (Donostia University Hospital)	Dr. Iruzubieta has received personal compensation in the range of $0-$499 for serving as a Participant in an activity with UCB. Dr. Iruzubieta has received personal compensation in the range of $500-$4,999 for serving as a Teacher in a course with Health in Code.
Bernard Brais, MD	Dr. Brais has nothing to disclose.
Erin K. O'Ferrall, MD (McGill University & Montreal Neurological Institute)	The institution of Dr. O'Ferrall has received research support from Sanofi Genzyme. The institution of Dr. O'Ferrall has received research support from Harmony Biosciences. The institution of Dr. O'Ferrall has received research support from Fulcrum Therapeutics. The institution of Dr. O'Ferrall has received research support from Roche Pharmaceuticals. The institution of Dr. O'Ferrall has received research support from VERTEX. The institution of Dr. O'Ferrall has received research support from Novartis. Dr. O'Ferrall has received publishing royalties from a publication relating to health care.

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