MYH7-related skeletal myopathy

MYH7-related skeletal myopathy is a rare autosomal dominant condition that primarily affects the muscles of the hands, feet, and neck. It is characterized by a slow progression of muscle weakness, particularly affecting the great toe, ankle dorsiflexors, finger extensors, and neck flexors. The severity and age of onset can vary among people with this condition. In addition to muscle weakness, some people may experience involvement of the heart and lungs over time, though these features can differ in each individual.

People with MYH7-related skeletal myopathy often experience weakness in the muscles of the great toe, ankle dorsiflexors (muscles that help lift the foot), finger extensors, and neck flexors. The progression of weakness is slow, and the symptoms can vary in how severe they are from one person to another.

This condition is caused by changes in the MYH7 gene and follows an autosomal dominant pattern of inheritance. This means that a change in just one copy of the gene can lead to the development of the condition.

Information about treatment is currently limited for this condition.

The progression of MYH7-related skeletal myopathy is generally slow, although the age of onset and severity of symptoms can vary among people. Health outcomes may also be influenced by the degree of cardiac and respiratory involvement, but there is a wide range in how the condition affects quality of life.

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