facioscapulohumeral muscular dystrophy 3

A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chr

A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.

Signs and symptoms

• Angulated muscle fibers
• Difficulty climbing stairs
• Scapular winging
• Fatigue
• Weakness of facial musculature
• Proximal muscle weakness
• Shoulder girdle muscle weakness
• Aspiration pneumonia
• Neck muscle weakness

Also known as: FSHD3; facioscapulohumeral muscular dystrophy type 3