myopathy with extrapyramidal signs

A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the

A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.

Signs and symptoms

• Epicanthus
• Elevated circulating creatine kinase activity
• Ataxia
• Hypertelorism
• Specific learning disability
• Proximal muscle weakness
• Clumsiness
• Global developmental delay
• Hypervalinemia
• Cerebellar dysplasia

Also known as: MPXPS; proximal myopathy with extrapyramidal signs