autosomal recessive limb-girdle muscular dystrophy type 27

An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous muta

An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32.

Signs and symptoms

• Proximal lower limb muscle weakness
• Proximal upper limb muscle weakness
• Muscular dystrophy
• EMG: myopathic abnormalities
• Neck muscle weakness
• Distal lower limb muscle weakness
• Distal upper limb muscle weakness
• Reduced forced vital capacity
• Scoliosis
• Achilles tendon contracture

Also known as: LGMDR27