Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

We have identified four patients with a childhood/adolescence onset of a myopathy from two unrelated consanguineous families. The patients have a wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures as characteristic features. All patients showed increased levels of serum creatine kinase but no or minor muscle weakness. Mild cardiac manifestations were observed. Light and electron microscopical investigations revealed a structural myopathy with numerous lobulated muscle fibers and considerable myofibrillar alterations with a coarse and irregular intermyofibrillar network.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: C. Hedberg-Oldfors, Supervillin Study Group, Supervillin Study Group Source Type: research