Learn About Central Core Disease
Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from barely noticeable to very severe. The severity of muscle weakness may differ even among affected members of the same family.
Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. The ryanodine receptor 1 protein forms a channel that releases calcium ions stored within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract, allowing the body to move.
The exact prevalence of central core disease is unknown. However, it is thought to be the most common of the congenital myopathies, which are a group of muscle disorders that cause weakness very early in life. As a group, congenital myopathies affect 6 per 100,00 newborns.
Central core disease is most often inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Advocate Medical Group Neurology
David Randall is a Neurologist in Park Ridge, Illinois. Dr. Randall is rated as an Experienced provider by MediFind in the treatment of Central Core Disease. His top areas of expertise are Lambert-Eaton Syndrome, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy, and Myasthenia Gravis.
Shelly Mills is a primary care provider, practicing in Family Medicine in Defiance, Ohio. Dr. Mills is rated as an Experienced provider by MediFind in the treatment of Central Core Disease. Her top areas of expertise are Congenital Muscular Dystrophy Type 1A, Central Core Disease, Benign Autosomal Dominant Myopathy, and Rigid Spine Syndrome.
Baystate Medical Practices Inc
Anant Shenoy is a Neurologist in Springfield, Massachusetts. Dr. Shenoy is rated as an Experienced provider by MediFind in the treatment of Central Core Disease. His top areas of expertise are Myasthenia Gravis, Peripheral Neuropathy, Generalized Tonic-Clonic Seizure, and Limb-Girdle Muscular Dystrophy Type 1B. Dr. Shenoy is currently accepting new patients.
Summary: Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial r...
Summary: In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR...
Published Date: May 01, 2020
Published By: National Institutes of Health