P324 A case of paediatric anti-HMGCR myopathy mimicking LGMD

8-year-old girl referred for hyperckaemia and early onset scoliosis. No family history of neuromuscular disorders, uneventful pregnancy, normal motor development, and no previous concerns. When seen at the age of 8 years, the family reported difficulties in climbing stairs in the previous 12 months. On clinical assessment, there was proximal muscle weakness in the lower and upper limbs (hamstring, iliopsoas, glutei, deltoid 4/5) and axial weakness (neck flexors 3/5, paraspinal, abdominal muscles 4/5) with no facial involvement.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research