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Central Core Disease

MmD


Presentation

  • 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]
  • Mild-to-moderate myopathic changes with muscle fiber hypertrophy were present in 16 patients. Notably, CCD was present in 2 adults and 3 children with the L908V mutation who did not have cardiac hypertrophy.[ncbi.nlm.nih.gov]
  • This case was presented to emphasize that patients with respiratory distress who cannot be weaned from the ventilator should be evaluated for central core disease with an atypical presentation.[ncbi.nlm.nih.gov]
  • However, the report of a recessive form of transmission together with a variable clinical presentation has raised the question of the genetic heterogeneity of the disease.[ncbi.nlm.nih.gov]
  • This subgroup of families linked to 19q13 represents the first variant of central core disease with genetically proven recessive inheritance and transient presentation as multi-minicore disease.[ncbi.nlm.nih.gov]
Dysostosis
  • A 15-year-old patient who had spondylocostal dysostosis (SCD) developed an MH crisis during general anesthesia.[ncbi.nlm.nih.gov]
  • Rarely, patients may show severe skeletal malformations such as those seen in spondylocostal dysostosis.[ncbi.nlm.nih.gov]
Death in Infancy
  • The outcome ranges from death in infancy to survival beyond age five years. The weakness in CCD is not typically progressive. Diagnosis/testing.[ncbi.nlm.nih.gov]
Masseter Spasm
  • Masseter spasm and malignant hyperthermia: a retrospective review of a hospital-based pediatric otolaryngology practice. Int J Pediatr Otorhinolaryngol. 1992 Jan; 23 (1):45–50. [ PubMed ] [ Google Scholar ] King JO, Denborough MA.[ncbi.nlm.nih.gov]
  • Masseter spasm and malignant hyperthermia: a retrospective review of a hospital-based paediatric otolaryngology practice. Int J Pediatr Otorhinolaryngol 1992 ; 23 : 45 –50. King JO, Denborough MA. Malignant hyperpyrexia in Australia and New Zealand.[doi.org]
  • Masseter spasm and malignant hyperthermia: a retrospective review of a hospital-based paediatric otolaryngology practice. Int J Pediatr Otorhinolaryngol 1992 ; 23 : 45 –50. King JO , Denborough MA.[doi.org]
Myopathy
  • This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that are subjects of our ongoing examinations.[ncbi.nlm.nih.gov]
  • Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures.[ncbi.nlm.nih.gov]
  • We suggest that all patients with idiopathic scoliosis deserve a thorough neurological evaluation if congenital myopathies are suspected.[ncbi.nlm.nih.gov]
  • A variety of muscle biopsy features were found; central cores were absent in the youngest case, and the biopsy specimens from two others were more suggestive of mini-core myopathy.[ncbi.nlm.nih.gov]
  • A 25-year-old woman with a non-familial congenital nonprogressive myopathy was found to have atypical core-like lesions in type 1 muscle fibers.[ncbi.nlm.nih.gov]
Muscle Contracture
  • The proband and his mother were subsequently shown to be susceptible to malignant hyperthermia by abnormal in vitro muscle contractures in the presence of halothane or caffeine.[ncbi.nlm.nih.gov]
  • Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group. Anesth Analg. 1989 Oct; 69 (4):511–515. [ PubMed ] [ Google Scholar ] Jurkat-Rott K, McCarthy T, Lehmann-Horn F.[ncbi.nlm.nih.gov]
  • Standardisation of the caffeine halothane muscle contracture test. Anaesth Analg 1989 ; 69 : 511 –15. Jurkatt-Rott K, McCarthy T, Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 2000 ; 23 : 4 –17. MacLennon D.[doi.org]
  • Standardisation of the caffeine halothane muscle contracture test. Anaesth Analg 1989 ; 69 : 511 –15. Jurkatt-Rott K , McCarthy T, Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 2000 ; 23 : 4 –17. MacLennon D .[doi.org]
Positive Gower's Sign
  • On physical examination, she had a high-arched palate, nasal tone vocalization, a positive Gowers' sign, waddling gait, and decreased deep tendon reflexes.[ncbi.nlm.nih.gov]
  • He had a moderate lumbar lordosis with waddling gait and positive Gower’s sign. His deep tendon reflexes were present except for the ankle jerks which were absent.[doi.org]
Lordosis
  • At age 5, he developed lordosis, talipes, and planovalgus. His grandmother died of malignant hyperthermia during surgery.[ncbi.nlm.nih.gov]
  • He had a moderate lumbar lordosis with waddling gait and positive Gower’s sign. His deep tendon reflexes were present except for the ankle jerks which were absent.[doi.org]
Short Neck
  • The patient was characterized phenotypically by block vertebrae, vertebral fusion, short neck and thorax, fused ribs, craniofacial abnormalities, spina bifida occulta, and a diaphragmatic defect closed surgically in early infancy.[ncbi.nlm.nih.gov]
Impulsivity
  • […] between plasma membrane dihydropyridine receptors (DHPRs, L-type Ca2 channels) and Ca2 release channels (ryanodine receptors, RyR1s) of the sarcoplasmic reticulum orchestrates a complex, bi-directional Ca2 signaling process that converts electrical impulses[ncbi.nlm.nih.gov]
Gowers Sign
  • On neurological examination, he had mild proximal muscle weakness and atrophy, decreased deep tendon reflexes and Gowers' sign, but his intelligence was normal. The electromyogram showed myopathic pattern.[ncbi.nlm.nih.gov]
  • On physical examination, she had a high-arched palate, nasal tone vocalization, a positive Gowers' sign, waddling gait, and decreased deep tendon reflexes.[ncbi.nlm.nih.gov]
  • He had a moderate lumbar lordosis with waddling gait and positive Gower’s sign. His deep tendon reflexes were present except for the ankle jerks which were absent.[doi.org]
Waddling Gait
  • On physical examination, she had a high-arched palate, nasal tone vocalization, a positive Gowers' sign, waddling gait, and decreased deep tendon reflexes.[ncbi.nlm.nih.gov]
  • He had a moderate lumbar lordosis with waddling gait and positive Gower’s sign. His deep tendon reflexes were present except for the ankle jerks which were absent.[doi.org]
Neonatal Hypotonia
  • Severe cases present as neonatal hypotonia and contractures Skeletal : Increased incidence of congenital dislocation of hips and scoliosis Malignant hyperthermia : increased susceptibility.[genetics4medics.com]
  • Monnier N, Laquerriere A, Marret S et al : First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. Neuromuscul Disord 2009; 19 : 680–684. 22.[nature.com]
  • Monnier N , Laquerriere A , Marret S et al : First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia . Neuromuscul Disord 2009; 19 : 680–684. 22.[nature.com]
  • Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. Eur J Pediatr. 2008 May. 167 (5):517-23. [Medline]. Birdi K, Prasad AN, Prasad C, Chodirker B, Chudley AE.[emedicine.com]
  • In a series of 250 infants with neonatal hypotonia described by Fardeau and Tome, muscle biopsy performed before age 2 months revealed that only 14% had a congenital myopathy.[emedicine.medscape.com]

Treatment

  • 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]
  • This is the first report with a detailed description of perioperative management on surgical treatment of scoliosis associated with central core disease.[ncbi.nlm.nih.gov]
  • We review the clinical and pathologic aspects, possible pathogenesis, and treatment of the MH syndrome.[ncbi.nlm.nih.gov]
  • Further evaluation of the underlying molecular mechanisms may provide the basis for future rational pharmacological treatment. In the majority of patients, weakness is static or only slowly progressive, with a favourable long-term outcome.[ncbi.nlm.nih.gov]
  • Surgical treatment may be required for some of these abnormalities. No relationship appears to exist between the degree of muscle weakness and the presence or type of musculoskeletal deformities.[ncbi.nlm.nih.gov]

Prognosis

  • 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 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]
  • 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]

Etiology

  • […] 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]

Epidemiology

  • […] 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • Prevention of the full manifestations of MH is predicated on (1) a high index of suspicion in the search for history of anesthetic complications in the patient and his family, with or without evident neuromuscular disease, (2) recognition that there is[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]
  • Prevention of secondary complications: Intervention as needed to prevent respiratory compromise from scoliosis; immunization against influenza; prompt treatment of respiratory infection; mobility and physical therapy to prevent joint contractures.[ncbi.nlm.nih.gov]
  • 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]

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