LAMA5

Parents

LAMA5 disease is a hereditary disorder affecting multiple organs and tissues including skin, eyes, teeth, muscle, joint, bowel. This disease was described for the first in 2016 and is associated to a DNA mutation that can be transmitted from one (dominant transmission) or both parents (recessive transmission).

In the dominant form the first symptoms can appear in the childhood and are mainly characterized by episodes of faint associated to low levels of blood sugar, slight retardation in growth parameters (that return normal during puberty), dental anomalies (mainly dental crowding), daytime sleepiness, joint and muscle pain; fatigability and weakness during exercise, decreased visual ability, joint hypermobility, bowels disturbances (that improve with a lactose and gluten free diet), scarring defects. Mild baldness can occur since puberty.

In the recessive form symptoms can be more severe with respiratory and feeding difficulties at birth, walking disturbance, contractures, eyelid drooping, facial, tongue and palate muscles weakness.