Conditions / Genetic
autosomal recessive limb-girdle muscular dystrophy type 2F
info · Genetic · ICD-10: G71.0
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).
Signs and symptoms
- Elevated circulating creatine kinase activity
- Gait disturbance
- Difficulty climbing stairs
- Scapular winging
- Proximal amyotrophy
- Proximal muscle weakness
- Calf muscle hypertrophy
- Muscular dystrophy
- Ventricular hypertrophy
- Gowers sign
Also known as: LGMD2F; delta-sarcoglycanopathy; limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency