Dados do Trabalho
NATURAL HISTORY OF LAMA2 RELATED DYSTROPHIES
LAMA2-related dystrophies (LAMA2-RD) represent a rare neuromuscular disorder with a wide spectrum of phenotype severity, ranging from mild to severe.
To establish disease natural history, we performed a cross-sectional study of LAMA2-RD through motor function and pulmonary tests.
Fourty-four individuals with LAMA2-RD were included and were evaluated through functional outcome measures (MFM32, RULM, goniometry and Forced Vital Capacity (FVC)).
Resultados e Conclusões
The most frequent phenotype presentation was non-ambulatory (N=36, 81,8%), while eight patients (18,2%) were able to walk. Non-ambulatory group presented a more severe progression of disease. Non-ambulatory patients had a 1.85% decrease in FVC/year, against 0.98%/year among ambulatory patients. In the non-ambulatory group, there was a 4.2% drop/year in MFM32-D2 domain (p<0.00001), a 2.6% drop/year in D3 domain (p<0.0001), and a 2.7% drop/year in the MFM32 global assessment (p<0.0001). However, the evaluation of upper limb function, in both groups, didn’t show statistically significant reduction. In the non-ambulatory group elbow and knee retractions worsened 3.22 degrees/year (p=0.00087) and 1.92 degrees/year, respectively. While those patients who acquired gait, elbow and knee retractions worsened 1.41 degrees/year (p=0.0003) and 1.95 degrees/year (p=0.01), respectively. This study confirmed the progressive nature of LAMA2-RD, both in ambulant and non-ambulant patients. MFM32, FVC and goniometry were identified as promising outcome measures for natural history studies and clinical trials in LAMA2-RD.
LAMA2, MUSCULAR DYSTROPHY, NATURAL HISTORY
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Referências (se houver)
CLARA GONTIJO CAMELO, MARIANA CUNHA ARTILHEIRO, CRISTIANE ARAUJO MARTINS MORENO, ALULIN TÁCIO QUADROS MONTEIRO FONSECA, RODRIGO HOLANDA MENDONCA, ANDRE MACEDO SERAFIM DA SILVA, UMBERTINA CONTI REED, EDMAR ZANOTELI