distal myopathy 1

A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Tibialis anterior muscle atrophy
• Left atrial enlargement
• Lumbar hyperlordosis
• Hyporeflexia
• Distal lower limb muscle weakness
• Weakness of long finger extensor muscles
• Tip-toe gait
• Facial palsy
• Toe extensor amyotrophy

Also known as: Distal myopathy type 1; Gowers disease; Laing distal myopathy; Laing early-onset distal myopathy; MPD1