Muscular Dystrophy, Selcen Type
Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
To date, three cases have been described.
Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions, and apoptosis of a small fraction of the nuclei characterize the disease.
The disease is due to a mutation in the BAG3 gene, encoding a protein localized to the Z disk.
Transmission is autosomal dominant.