mitochondrial DNA depletion syndrome 4b

A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosom

A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26.

Signs and symptoms

• Sensory ataxic neuropathy
• Intestinal pseudo-obstruction
• Depletion of mitochondrial DNA in muscle tissue
• Muscle weakness
• Cytochrome C oxidase-negative muscle fibers
• Multiple mitochondrial DNA deletions
• Ragged-red muscle fibers
• Progressive external ophthalmoplegia
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV

Also known as: mitochondrial neurogastrointestinal encephalopathy syndrome