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]

• Poor Feeding

  He was admitted to the special care baby unit at 2 days of age because of poor feeding. His mother informed us that at the time he was noted to be hypotonic and his legs appeared weak. [doi.org]

• Dysostosis

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

  […] congenital myopathies (CM), central core disease (CCD), and multiminicore disease (MmD). [medlink.com]

• Progressive Muscle Wasting

  Figure 3 summarises the family tree; we were informed that the paternal grandfather, who had since died, developed a progressive muscle wasting disease in the sixth decade. [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]

• Mild Facial Weakness

  On examination at 42 years of age, she was found to have facial weakness and mild weakness of the hip adductors. [doi.org]

• 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]

  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]

  hypotonia Low muscle tone, in neonatal onset 0001319 Nonprogressive 0003680 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Slow progression Signs and symptoms worsen slowly with time 0003677 Showing of 33 | Last updated: [rarediseases.info.nih.gov]

  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]

  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]

• Clumsiness

  He was slow at running compared with his peers and was described as clumsy with a tendency to fall frequently. Figure 2 Case B1, showing mild facial weakness with an inability to bury the eyelashes and early onset scoliosis. [doi.org]

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]

Is there a treatment or cure? Currently there is no treatment or cure for central core disease, but there are some important ways to manage the condition. Physiotherapy. [musculardystrophyuk.org]

[…] 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 [msdmanuals.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]

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]

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]

[…] 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]

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]

[…] 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]

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]

Complications Congenital myopathies are associated with a number of complications, such as: Delays in motor skills Scoliosis Pneumonia Respiratory failure Feeding problems Death Prevention There's no way to prevent congenital myopathies. [mayoclinic.org]