We studied seven patients (fetuses/infants) from six unrelated families affected by central core disease (CCD) and presenting with a fetal akinesia syndrome. [ncbi.nlm.nih.gov]

We report on a 9-year-old boy with central core disease and mitochondrial dysfunction due to compound heterozygous RYR1 mutations receiving albuterol treatment for 1 year. [ncbi.nlm.nih.gov]

Prognosis is often determined by respiratory, orthopedic, and bulbar involvement. Over the past decade, a number of causative genes have been identified for congenital myopathies. [neurologyindia.com]

[…] magnus of thigh, as well as soleus and peroneal group of lower leg Relative sparing of gracilis, adductor longus and rectus femoris ( Neurology 2013;80:1584 ) Prognostic factors Autosomal dominant mutations are typically associated with a favorable prognosis [pathologyoutlines.com]

Prognosis The prognosis for patients with myopathy depends on the type and severity of the individual disease. In most cases, the myopathy can be successfully treated and the patient returned to normal life. [medical-dictionary.thefreedictionary.com]

Prognosis The prognosis for patients with myopathy depends on the type and severity of the individual's disease. In most cases, the myopathy symptoms can be successfully treated, but in others, the disease can be fatal in childhood or adolescence. [healthofchildren.com]

Prognosis The typical form of dominantly inherited CCD is usually associated with a mild to moderate degree of disability and carries an overall favourable prognosis, although the degree of severity may be variable, occasionally within the same family [ojrd.com]

[…] channel properties of RyR1s carrying one recurrent and two novel mutations upholds the view that diminished intracellular Ca(2 ) release caused by impaired Ca(2 ) channel gating and/or Ca(2 ) permeability is an important component of central core disease etiology [ncbi.nlm.nih.gov]

[…] of skeletal muscle fibers, as seen on enzymatic stains such as NADH Epidemiology One of the more common congenital myopathies but true incidence is unknown Sites Predominantly involves proximal musculature Most frequently hip girdle and axial muscles Etiology [pathologyoutlines.com]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

As such, consideration for the specific etiology is needed. Additionally, many infants/neonates with congenital myopathy can make improvements in the first few years of life. [emedicine.com]

Myotubular myopathy Centronuclear myopathy Myopathies with fiber size variation Congenital fiber type disproportion With the advent of improved techniques such as electron microscopy, enzyme histochemistry, immunocytochemistry, and molecular genetics, the etiologies [emedicine.medscape.com]

[…] genetic investigations aimed at solving heterogeneity and discordance issues in MHS; new initiatives aimed at identifying modulating factors that influence the penetrance of clinical MH in MHS individuals; and detailed studies aimed at describing the full epidemiological [ncbi.nlm.nih.gov]

EPIDEMIOLOGY: incidence: ? age of onset: newborn - infancy risk factors: familial - autosomal dominant chrom.#: 19q13.1 gene: ryanodine receptor (RYR1) M F PATHOGENESIS: 1. [pedbase.org]

[…] weakness is insufficient for diagnosis of central core disease Terminology "Central core" refers to areas of reduced oxidative and glycolytic enzymatic activity along the longitudinal axis of skeletal muscle fibers, as seen on enzymatic stains such as NADH Epidemiology [pathologyoutlines.com]

Epidemiology Epidemiological data are only available for the congenital myopathies as a group but not for specific conditions. [ojrd.com]

The review is also focused on discussing novel results in regard to pathophysiological consequences of specific MH/CCD RyR1 mutant proteins, which are representative of the different cellular mechanisms that are linked to either phenotype. [ncbi.nlm.nih.gov]

Kenji Ikeda, Qianqian Kang, Takeshi Yoneshiro, Joao Paulo Camporez, Hiroko Maki, Mayu Homma, Kosaku Shinoda, Yong Chen, Xiaodan Lu, Pema Maretich, Kazuki Tajima, Kolapo M Ajuwon, Tomoyoshi Soga & Shingo Kajimura Nature Medicine (2017) Physiology and pathophysiology [nature.com]

[…] subtypes: central core and multiminicore myopathy); centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy); congenital fiber-type disproportion myopathy; myosin storage myopathy; and nonspecific myopathic changes Pathophysiology [emedicine.com]

Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances. [clevelandclinicmeded.com]

Pathophysiology In the common, well-described congenital myopathies, mutations have been identified in genes that encode for muscle proteins. [emedicine.medscape.com]

Recessive inheritance in CCD may therefore be more common than previously appreciated, which has important implications for genetic counseling and MH prevention in affected families. [ncbi.nlm.nih.gov]

MH can be prevented by avoiding the triggering anaesthetic agents with alternative drugs. Local anaesthetics are quite safe. [mda.org.au]

It also helps to delay the onset of curvature of the spine (scoliosis) and help prevent the development of contractures. Moderate exercise such as swimming, walking or pedaling may help maintain a healthy cardiovascular system and a steady weight. [genpharmservices.com]