mitochondrial DNA depletion syndrome 20

A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, an

A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12.

Signs and symptoms

• Intestinal pseudo-obstruction
• Headache
• Multiple mitochondrial DNA deletions
• Diffuse leukoencephalopathy
• Neurogenic bladder
• Cerebellar atrophy
• Macular degeneration
• Abnormal pyramidal sign
• Recurrent infections
• Mental deterioration

Also known as: mitochondrial DNA depletion syndrome 20 (MNGIE type)