A Unique Case of Congenital Muscular Dystrophy

Overview

The congenital muscular dystrophies (CMD, MDC) represent a heterogeneous group of autosomalrecessive disorders manifesting in infancy by muscle weakness and hypotonia. Approximately40 % of patients with CMD have a primary deficiency of the laminin
2 - chain of merosin (laminin-2) due to mutations in LAMA2 gene. Laminin-2 bound to
-dystroglycan forms a link betweenactin - associated cytoskeletal proteins and the components of extracellular matrix. Disruption ofthis axis is responsible for several forms of muscular dystrophy.A unique case of congenital muscular dystrophy simulating a juvenile polymyositis in a musclebiopsy is presented. A profound reduction of
-dystroglycan and less pronounced secondary deficiencyof
2-laminin were found. All known forms of CMD were excluded, and the disorder wasdiagnosed as so far undescribed form of CMD. The mutation in a gene encoding the protein, thatseems to play a role in a glycosylation of
-dystroglycan, is presumed.

Key words:
congenital muscular dystrophy - juvenile polymyositis - FKRP -
-dystroglycan.