Central core disease (CCD) is a rare genetic neuromuscular disorder that is classified as a congenital myopathy, meaning that it is a muscle disorder (myopathy) that is present at birth (congenital). Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability.The severity of these symptoms varies and can change throughout one's life to some extent. Central core disease is a congenital myopathy defined by the presence on muscle biopsy microscopy of numerous muscle fibers that lack oxidative activity, thus making "cores" on NADH-stained slides within muscle fibers. Central-core disease occurs due to autosomal recessive mutations in the RYR1 gene and presents with abnormal mitochondrial structure, detected by histology and electron microscopy (central core due to abnormal mitochondrial structure and localization), due to abnormal cellular calcium transport. Common features are floppy infant syndrome, delayed motor milestones, and generalized muscle hypotonia during adolescence. Most CCD families are linked to mutations in ryanodine receptor type-1 (RYR1), the gene encoding for the sarcoplasmic reticulum (SR) Ca2+ release channel of skeletal muscle. Some plaques contain a dense central core of amyloid and diagnosis of Alzheimer's disease is based partially on the density of the plaques. Congenital myopathies: central core disease centronuclear myopathy congenital fiber type disproportion (pending) multi-mini core myopathy (pending) nemaline myopathy Central core disease is a rare condition and symptoms usually become apparent at birth or early infancy, although cases have been reported where symptoms are present in the developing foetus. Selective muscle involvement in RYR1-related central core disease (CCD) and multi-minicore disease (MmD). Central core disease (CCD) is an … Problem with ryanodine receptor. central nucei. accumulation of proteins. Adult: Myopathic changes in mild central core disease Fiber size: Variability Connective tissue: Normal or Mildly increased Internal nuclei: Some muscle fibers Muscle fiber types Marked type I muscle fiber predominence Some cores have loss of central myofibrillar structure There is no known cause for the disease. This condition causes muscle weakness that ranges from almost unnoticeable to very severe. This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Summary. Central core disease (OMIM 117000) is an autosomally inherited muscle disorder characterized by the presence of cores in muscle fibers. Cores are well-delimited, rounded areas devoid of oxidative staining, located in the cytoplasm of muscle fibers. Central core disease falls under the category of congenital myopathies, which is a group of conditions characterised by muscle weakness and wasting. CNS Degenerative Diseases. Central core disease is characterized pathologically by the presence of central core lesions extending the length of type I muscle fibers. What Is The Definition Of CCD Central core disease of muscle Medical Dictionary Free Online ... medical school histology medical school harvard medical school how …