Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Emery-Dreifuss muscular dystrophy 5, autosomal dominant is a rare condition caused by a mutation in the SYNE2 gene. This condition is inherited in an autosomal dominant pattern, meaning that a change in just one of the two copies of the gene can cause the disease. The disease is part of a group of conditions known as Emery-Dreifuss muscular dystrophies. It is characterized by muscle weakness and can affect the heart muscles as well. Information about all the clinical details remains limited in published sources.

Information about symptoms is currently limited for this condition.

The cause of Emery-Dreifuss muscular dystrophy 5 is a mutation in the SYNE2 gene. This mutation is inherited in an autosomal dominant manner, meaning that the condition can be passed from one affected parent to their children. This genetic change disrupts the normal function of the protein encoded by the SYNE2 gene.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.