MEPAN
Long Name: Mitochondrial Enoyl CoA Reductase Protein Associated Neurodegeneration
MEPAN is caused by 2 mutations in the gene MECR (which encodes the protein mitochondrial trans-2-enoyl-coenzyme A-reductase), a newly described mitochondrial disease, which includes optic atrophy, childhood-onset dystonia (a movement disorder involving high tone and posturing); children may develop difficulty walking, with speech articulation and with vision loss. MRI lesions in the basal ganglia can mimic Leigh syndrome as well as one of the NBIA disorders (neurodegneration with brain iron accumulation).
Common Symptoms: Movement disorder (dystonia, spasticity, chorea, ataxia) in childhood, reduced vision, difficulty with speech (dysarthria), balance issues
Links: https://rarediseases.info.nih.gov/diseases/13488/mepan-syndrome