R1 calpain3-related is extremely rare, and its prenatal management is unclear. A primigravida in her late 30s with LGMD R1 calpain3-related was referred to our hospital during the first trimester.

More than 30 types of muscular dystrophy have been identified. They all cause problems with movement due to muscle protein defects caused by genetic mutations. Muscular dystrophy is a group of ...

Duchenne muscular dystrophy (DMD) is a rare neurological condition that causes severe muscle weakness and intellectual disability. DMD is an inherited (passed down) disorder. The condition is linked ...

The muscular dystrophies are commonly associated with cardiovascular complications, including cardiomyopathy and cardiac arrhythmias. These complications are caused by intrinsic defects in ...

Genetic testing, often via a blood sample, can confirm a muscular dystrophy diagnosis. It can also identify specific gene mutations to help guide treatment and determine whether or not someone is a ...

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic condition that can lead to the slow deterioration of muscles, predominantly in the face, shoulder blades, and upper arms. Facioscapulohumeral ...

Congenital muscular dystrophy (CMD) is a disease that affects certain muscles. Individuals with CMD may experience symptoms such as muscle weakness and joint problems. “Congenital” means present since ...

A new gene therapy treatment for Duchenne muscular dystrophy (DMD) shows promise of not only arresting the decline of the muscles of those affected by this inherited genetic disease, but perhaps, in ...