congenital generalized lipodystrophy type 4

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Lipodystrophy
• Centrally nucleated skeletal muscle fibers
• Muscle mounding
• Increased variability in muscle fiber diameter
• Muscle stiffness
• Skeletal muscle hypertrophy
• Hepatomegaly
• Splenomegaly
• Muscle weakness

Also known as: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; congenital generalised lipodystrophy type 4; generalised congenital lipodystrophy type 4; generalised congenital lipodystrophy with myopathy; generalized congenital lipodystrophy type 4