multiple mitochondrial dysfunctions syndrome 10

A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities

A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11.

Signs and symptoms

• Achilles tendon contracture
• Elevated circulating creatine kinase activity
• Weakness of facial musculature
• Reduced forced vital capacity
• Calf muscle pseudohypertrophy
• Metrorrhagia
• Specific learning disability
• Axial muscle weakness
• Proximal muscle weakness
• Easy fatigability

Also known as: MMDS10