CASE REPORT
Rare Genetic Variant of Distal Myopathy with Posterior Leg and Anterior Hand Involvement: Case Report
Daifallah Almalki1, *, Abdulrahman Ali2
Article Information
Identifiers and Pagination:
Year: 2020Volume: 14
First Page: 93
Last Page: 94
Publisher ID: TONEUJ-14-93
DOI: 10.2174/1874205X02014010093
Article History:
Received Date: 09/06/2020Revision Received Date: 29/09/2020
Acceptance Date: 30/09/2020
Electronic publication date: 25/11/2020
Collection year: 2020
open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.
