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Abstract Details

Clinicogenetic Lessons from 370 Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy
Neuromuscular and Clinical Neurophysiology (EMG)
S6 - Neuromuscular and Clinical Neurophysiology (EMG): Genetic Muscle Disorders (2:48 PM-3:00 PM)
010
Characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil.
Limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of genetic disorders characterized by predominantly proximal muscle weakness starting after independent ambulation is attained. LGMD with autosomal recessive inheritance (LGMD2/LGMD-R) are the most common group of these disorders, but relative frequencies among LGMD2/LGMD-R sub types vary from region to region. There is a lack of epidemiological data about LGMD in Latin America, with only few single-center studies reporting sarcoglycanopathies as the most frequent sub types in Brazil.
A multicenter historical cohort study was performed at 13 centers representing all geographical regions from Brazil, in which index cases and their affected relatives' data from consecutive families with genetic or pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies were built and progressions according to sex and genotype were estimated.
In 370 patients (305 families) with LGMD2/LGMD-R, most frequent sub-types were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related, each representing around 30% of families. Sarcoglycanopathies were the most frequent childhood-onset sub type, representing 21% of families. Five percent of families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare sub type world wide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related patients with truncating variants had earlier disease onset and more severe progression to handicap than patients without truncating variants.
We have provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the field.
Authors/Disclosures
Marcondes C. Franca, Jr., MD
PRESENTER 		Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
No disclosure on file
No disclosure on file
No disclosure on file
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
Edmar Zanotelli No disclosure on file
No disclosure on file
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
Pablo B. Winckler, MD, PhD (Clínica NeuroWin) Dr. Winckler has nothing to disclose.
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
No disclosure on file
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
No disclosure on file
No disclosure on file
Edmar Zanotelli No disclosure on file
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
No disclosure on file
Marcondes C. Franca, Jr., MD Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.
Pablo B. Winckler, MD, PhD (Clínica NeuroWin) Dr. Winckler has nothing to disclose.
No disclosure on file
Jonas A. Saute, MD No disclosure on file