Dr Clara Camelo presented key findings from a longitudinal study of Brazilian patients to better understand the correlation between genetic mutations and clinical symptoms in LAMA2-CMD patients.
Dr Camelo and her team at the University of São Paulo, Brazil have been following 63 patients for five years to characterise the clinical, genetic and MRI brain imaging profiles of Brazilian LAMA2-CMD patients. The main objectives of the study were to:
- Analyse the LAMA2 gene in the Brazilian population
- Draw a natural history profile
- Characterise brain MRI profiles
- Correlate important clinical findings with phenotypic findings
The study highlighted the importance of MRI imaging which allowed the identification of white matter disease and brain malformations in several patients. Dr Camelo emphasised how difficult it could be to see these malformations on MRI imaging and the consultation of specialised brain radiologists was required.
Key findings from the study included:
- White matter disease severity was correlated with severity of motor function loss
- Brain malformations were found in 19% of patients, often correlated with epilepsy
- Many mutations were found in the LAMA2 gene including 21 never reported before
- At least one episode of hypoglycaemia was reported in 31% of patients
- Hypoglycaemia was only found in non-ambulant patients
This lecture was presented at the 2023 international conference on LAMA2-CMD in Barcelona.