sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation i

A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.

Signs and symptoms

• Gait ataxia
• Muscle weakness
• Ragged-red muscle fibers
• Increased variability in muscle fiber diameter
• Multiple mitochondrial DNA deletions
• Progressive external ophthalmoplegia
• Ptosis
• External ophthalmoplegia
• Areflexia
• Dysarthria

Also known as: SANDO; autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions