distal myopathy with rimmed vacuoles

A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by hetero

A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35.

Signs and symptoms

• Internally nucleated skeletal muscle fibers
• Foot dorsiflexor weakness
• EMG: myopathic abnormalities
• Facial palsy
• Scapular winging
• Skeletal muscle atrophy
• Elevated circulating creatine kinase activity
• Steppage gait
• Rimmed vacuoles
• Absent Achilles reflex