myofibrillar myopathy 6

A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in he

A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Respiratory insufficiency
• EMG: myopathic abnormalities
• Restrictive cardiomyopathy
• Spinal rigidity
• Facial palsy
• Distal sensory impairment
• Axonal loss
• Generalized amyotrophy
• Hyporeflexia