Diagnosis of rare, genetic muscle disease improved by new approach

It’s not easy to distinguish between the dozens of subtypes of limb girdle muscular dystrophy — a rare, genetic muscle disease characterized by weakness in the hips and shoulders that causes difficulty walking and lifting the arms. Until now, determining the subtype has not been critical in caring for patients, because no specific treatments have […]

Common brain malformation traced to its genetic roots

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition causes headaches, neck pain, hearing, vision and balance disturbances, or other neurological symptoms. In […]