About LBSL

LBSL is a rare autosomal recessive disorder caused by mutations in the DARS2 gene. This gene encodes for mitochondrial aspartyl-tRNA synthetase, an enzyme necessary for the translation of mitochondrial messenger RNA into protein. LBSL is a disorder with a variable age of onset and severity. Symptoms may appear in the first months of life up to later adulthood, but in the majority the onset is in childhood. The most important signs are spasticity (muscle stiffness, muscle cramps), ataxia (coordination problems) and sensory problems. The legs are more severely affected than the arms. The degree of handicap varies. Some patients become wheelchair-dependent as a child and have severely decreased manual dexterity, making them dependent on others for all daily activities, while other patients show only mild neurological abnormalities that interfere with daily life to a small extent. Some patients have learning problems or show signs of some mental decline. The disease course is generally slowly progressive, without sudden episodes of deterioration. Life expectancy can be normal, but there are also severe forms with a fatal course early in life.