autosomal recessive limb-girdle muscular dystrophy type 2H

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.

Signs and symptoms

• Proximal amyotrophy
• Proximal muscle weakness
• EMG: myopathic abnormalities
• Elevated circulating creatine kinase activity
• Facial palsy
• Quadriceps muscle weakness
• Gowers sign
• Calf muscle pseudohypertrophy
• Pelvic girdle muscle weakness
• Waddling gait

Also known as: LGMD2H; limb-girdle muscular dystrophy due to TRIM32 deficiency; muscular dystrophy Hutterite type; sarcotubular myopathy