tibial muscular dystrophy

A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein

A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.

Signs and symptoms

• Tibialis muscle weakness
• Tibialis anterior muscle atrophy
• Steppage gait
• Muscular dystrophy
• Rimmed vacuoles
• EMG: myopathic abnormalities
• Cardiomyopathy

Also known as: Finnish tibial muscular dystrophy; TMD; Tardive tibial muscular dystrophy; Udd myopathy; Udd type distal myopathy