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]

• Dysostosis

  A 15-year-old patient who had spondylocostal dysostosis (SCD) developed an MH crisis during general anesthesia. [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]

• 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]

• 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]

• 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]

• 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]

  During a nerve conduction velocity study, motor and sensory nerves are electrically stimulated to assess a nerve's ability and speed in conducting nerve impulses. [rarediseases.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]

  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]

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]

The 3 most common types of congenital myopathy, in order, are Central core and multiminicore myopathies (core myopathies) Centronuclear myopathy Nemaline myopathy The types are distinguished primarily by their histologic features, symptoms, and prognosis [merckmanuals.com]

What is the prognosis? In most cases, symptoms become apparent at birth or shortly after. They include hypotonia (floppiness) and weakness of the muscles closest to the trunk of the body. [musculardystrophyuk.org]

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]

[…] 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]