What is LBSL (Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation)?
LBSL is an autosomal recessive disorder characterized by a range of neurological issues.
What Are the Symptoms?
Symptoms may include:
- Spasticity
- Cerebellar ataxia
- Mild cognitive defects
- Gait disturbance
- Seizures
- Dysarthria
- Hand tremors
- Nystagmus
How Do You Get LBSL?
It is caused by mutation in the DARS2 gene. Nearly all individuals with this disorder have actually inherited 2 different autosomal recessive mutations that have the combined effect of causing disease. Further research is needed as to how these mutations cause the symptoms.
How Is LBSL Diagnosed?
This disorder is diagnosed through examination of physical symptoms, detailed patient history, thorough clinical evaluation, MRI and genetic testing.
Is There a Treatment?
There is no known cure. Treatment is symptomatic and may include: supportive therapy, medications, special education and speech therapy.