NARP syndrome

A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene M

A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.

Signs and symptoms

• Retinal pigment epithelial mottling
• Seizure
• Myopathy
• Global developmental delay
• Ataxia
• Nystagmus
• Dementia
• Blindness
• Mitochondrial myopathy
• Rod-cone dystrophy

Also known as: Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; Neuropathy-ataxia-retinitis pigmentosa syndrome; neuropathy, ataxia and retinitis pigmentosa