Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) is a rare, hereditary neurodegenerative disease. The disease is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals. While tendon reflexes are retained, neurological dysfunction occurs in the arms and the legs with the latter being more affected. Onset of the disease arises in early childhood while some cases may arise in adulthood.

Signs and symptoms
The most common symptoms experienced in LBSL are:
 * Spasticity of the muscles
 * Dysarthria
 * Problems with Proprioception
 * Hand tremors
 * Nystagmus
 * Seizures

Cause
LBSL is caused by an abnormal variant on in the DARS2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body.