Pay attention to the diagnosis and studies of brain abnormalities in muscular dystrophies / 中华神经科杂志

ABSTRACT

Muscular dystrophy is a group of progressive muscle diseases caused by inherited genetic mutations. Muscular weakness and atrophy are the most common presentations. Muscle biopsies show obvious muscular necrosis, regeneration and abnormal hyperplasia of fibrous connective tissues. In addition to the manifestations of the skeletal muscle, many patients also exhibit symptoms due to the involvement of brain, eye, heart, or endocrine organs. Brain involvement can manifest as neurological and cognitive abnormalities, such as intellectual disability, seizures, drowsiness, or autism spectrum disorders. Cranial imaging can be normal or shows gray matter atrophy and abnormal white matter signals. Clinicians should pay attention to the diagnoses and studies of brain abnormalities in patients with muscular dystrophies. The progression of the brain abnormalities should be explored, and effective intervention measures should be designed based on different ages. Since muscular dystrophies are rare diseases with a very low incidence, national collaboration with sophisticated neuromuscular centers is absolutely essential to support clinical care and basic research for such disorders. Basic research scientists should also seek techniques of modern molecular biology such as induced pluripotent stem cells-derived neuronal cells and multiple omics techniques to identify the pathological mechanisms, analyze the phenotypic characteristics, and prioritize candidate therapeutic targets.