autosomal recessive limb-girdle muscular dystrophy type 2Z

An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosom

An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.

Signs and symptoms

• Skeletal muscle atrophy
• Scapular winging
• Fatty replacement of skeletal muscle
• Proximal lower limb muscle weakness
• Limb-girdle muscular dystrophy
• Reduced FEV1/FVC ratio
• Respiratory insufficiency
• Restrictive ventilatory defect
• Reduced forced vital capacity
• Loss of ambulation

Also known as: limb-girdle muscular dystrophy 21