An Italian team carried out a systematic review of the literature on the subject of “epilepsy and muscular dystrophies linked to LAMA2”, the results are reported in an article published in July 2021.
The authors selected 20 studies involving 50 people with genetically confirmed LAMA2-related muscular dystrophy and presenting epileptic manifestations.
- The average age of onset of the first epileptic seizure is 8 years, with a significant difference between the early-onset forms (congenital muscular dystrophy) where it is 5.87 ± 4.11 years and the later form (girdle muscular dystrophy R23) where it is 9 ± 2.65 years, as well as between the forms with complete merosine deficit (5.33 ± 3.70 years) and that with a partial deficit (10.36 ± 5.59 years).
- Regardless of the age of onset or the extent of the merosine deficiency, the initial seizures were most often generalized.
- There is no correlation between the early onset of epileptic seizures and the presence of cortical malformations. The latter, however, tends to be correlated with focal or focal and generalized seizures.
- The literature review did not allow clear conclusions to be drawn on the relative effectiveness of the various antiepileptic treatments.
The authors conclude that epilepsy is more than an incidental manifestation of muscular dystrophies associated with LAMA2 and requires early detection and intervention.