Central Core Myopathy
This is a rare genetic neuromuscular disease, which belongs to the family of congenital myopathies. It is mainly inherited in an autosomal dominant pattern, although there are autosomal recessive cases, which are even more serious. Of course, the case of de novo mutations, without a family history, is not excluded.
It is presented from neonatal age, with subtle infants, muscle weakness, mainly in the muscles near torso such as shoulders, pelvis, upper parts of arms and feet and skeletal abnormalities such as scoliosis and kyphosis. There may be milestone delay. There is often muscle weakness in the facial muscles, but there is usually no effect on the eyelid muscles, which distinguishes this myopathy from the rest. In addition, hip and knee dislocation occurs, even in neonates, muscular contractures, mainly in the Achilles tendon, flat-throat or a very large arch in the heel. If it occurs during embryonic life, then there is stillness, hypotonia, muscle fibrosis (congenital arthrogryrosis) and severe respiratory problems.
This particular disease is directly related to malignant hyperthermia, yet another autosomal dominant disorder, which is triggered by the administration of certain anesthetic drugs. Then there is muscle stiffness, hypertension, high carbon monoxide values in the blood and exhaled air, sudden tachycardia, sudden darkness, cyanosis and deferred hyperthermia. If not treated directly, internal bleeding is induced with brain dysfunction, muscle degeneration, renal and heart failure. Generally there is heterogeneity in the symptoms, which may be so mild that they may not even be perceived.
Most blood tests are performed to determine the CK enzyme, which is usually normal or slightly high, clinical examination by specialists, personal and family history due to inherited type, muscle biopsy, where very characteristic lesions in the muscles and tests nerve signal transmission velocity.
There is no cure, but the treatment of each symptom to prevent complications. That is, monitoring and counseling by many healthcare professionals is required, depending on the symptoms. It is recommended to use special devices for proper body and head position, specific exercises and stretches to maintain muscle function and strength, and to avoid seizures. Respiratory support and use of special feeding tubes, where and when this is deemed necessary, and use of special orthopedic devices and interventions for the correction of orthopedic complications such as scoliosis.
For the Standards of care refer you may visit the following article: https://drive.google.com/file/d/11iOxRi9jCtlNEXp9ihHhTKJJgZGUrIe8/view?u...
Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/264/idiop... and https://clinicaltrials.gov/ct2/home
Muscular Dystrophy Association