facioscapulohumeral muscular dystrophy 1

A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

Signs and symptoms

• Facial palsy
• Elevated circulating creatine kinase activity
• Seizure
• Scapular winging
• Inability to puff cheeks
• Serous retinal detachment
• Tongue atrophy
• Abdominal wall muscle weakness
• Scapulohumeral muscular dystrophy
• Retinal telangiectasia

Also known as: FSHD1; facioscapulohumeral muscular dystrophy type 1; facioscapulohumeral muscular dystrophy type 1A