mitochondrial DNA depletion syndrome 7

A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which

A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.

Signs and symptoms

• Encephalopathy
• Hypotonia
• Sensory axonal neuropathy
• Epilepsia partialis continua
• Decreased number of large peripheral myelinated nerve fibers
• Status epilepticus
• Vomiting
• Areflexia
• Ophthalmoplegia
• Loss of ambulation

Also known as: OHAHA SYNDROME; infantile onset spinocerebellar ataxia