Central Core DiseaseSymptoms, Doctors, Treatments, Advances & More
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.
OSF Illinois Neurological Institute - Neurology
Christopher Zallek is a Neurologist and a Neuroradiologist practicing medicine in Peoria, Illinois. Dr. Zallek is rated as an Experienced provider by MediFind in the treatment of Central Core Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Peripheral Neuropathy, Spinal and Bulbar Muscular Atrophy, and Spinal Muscular Atrophy Type 3. Dr. Zallek is board certified in American Board Of Electrodiagnostic Medicine and American Board Of Psychiatry And Neurology.
Duke Electromyography Laboratory - Clinic 1L
Vern Juel is a Neurologist practicing medicine in Durham, North Carolina. He has been practicing medicine for over 37 years. Dr. Juel is rated as an Advanced provider by MediFind in the treatment of Central Core Disease. He is also highly rated in 71 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Lambert-Eaton Syndrome, Inclusion Body Myositis, Meige Syndrome, and Thymectomy. Dr. Juel is board certified in American Board Of Psychiatry/Neurology, Clinical Neurophysiology , American Board Of Psychiatry/Neurology, Neurology , and American Board Of Psychiatry/Neurology, Neuromuscular Medicine.
Neurological Sciences Center At Clarkson Doctors Building North
Pariwat Thaisetthawatkul is a Neurologist practicing medicine in Omaha, Nebraska. He has been practicing medicine for over 36 years. Dr. Thaisetthawatkul is rated as an Advanced provider by MediFind in the treatment of Central Core Disease. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Stiff Person Syndrome, Chronic Inflammatory Demyelinating Polyneuropathy, Myasthenia Gravis, and Inclusion Body Myositis.
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...
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...
Published Date: May 01, 2020
Published By: National Institutes of Health