autosomal dominant limb-girdle muscular dystrophy type 1

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

Signs and symptoms

• Decreased compound muscle action potential amplitude
• Rimmed vacuoles
• Difficulty climbing stairs
• Loss of ambulation
• Dysphagia
• Elevated circulating creatine kinase activity
• Muscle fiber splitting
• Muscular dystrophy
• Pelvic girdle muscle weakness
• Shoulder girdle muscle weakness

Also known as: autosomal dominant limb-girdle muscular dystrophy type 1E; muscular dystrophy limb-girdle type 1D; muscular dystrophy limb-girdle type 1E