On the occasion of the description of a Mexican case with an anomaly in the gene encoding the TRAPPC11 complex, a team from Mexico City reviewed the 54 cases of TRAPPC11-pathies published to date:
- the muscle involvement was of the slowly progressive limb-girdle muscular dystrophy type (LGMDR18) with or without developmental delay and/or cognitive difficulties (n=12) or was part of a systemic syndrome mainly affecting the muscle, brain, liver, eyes, heart and bones (n=42).
- Forty patients were able to walk unaided, 19 with difficulty; ten were in the process of losing their ability to walk;
- while in the limb-girdle forms the muscular damage occurred in childhood, it was generally present at birth in the systemic forms (6 cases had even been diagnosed as congenital muscular dystrophy);
- the Mexican observation adds obstructive hydrocephalus, retro-cerebellar cyst and equinus varus clubfoot to the morphological alterations described to date in TRAPPC11-pathies.
