Rare Genetic Variant of Distal Myopathy with Posterior Leg and Anterior Hand Involvement: Case Report

Abstract

Distal myopathies are a heterogeneous group of genetic muscle disorders characterized by weakness of distal muscle groups of the upper and lower extremities. The various types of distal myopathies can be clinically differentiated based on age at onset, pattern of muscle involvement, disease severity, and the mode of inheritance. We described a case of slowly progressive muscle weakness that involved one of the patients’ hand and posterior leg muscles. Her genetic study showed a rare variant that likely contributed to distal myopathy with posterior leg and anterior hand involvement (distal actin-binding domain [ABD]-filaminopathy). The disease is due to mutations on the actin-binding domain of the FLNC gene that encodes filamin C. This variant has been described only in one Italian family. This rare variant will expand our knowledge about the rare phenotype of distal myopathy with posterior leg and anterior hand involvement.