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.

Epidemiology

To date, three cases have been described.

Clinical description

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.

Etiology

The disease is due to a mutation in the BAG3 gene, encoding a protein localized to the Z disk.

Genetic counseling

Transmission is autosomal dominant.