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]

Clinical description CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness, pronounced in the hip girdle. [orpha.net]

• Dentist

  Physicians and dentists caring for patients with central core disease should be aware of its possible association with malignant hyperthermia. [ncbi.nlm.nih.gov]

  Because individuals with CCD may be at risk for malignant hyperthermia when exposed to certain general anesthetics or muscle relaxants, this risk must be taken into consideration by surgeons, anesthesiologists, dentists and other health care workers when [rarediseases.org]

• Internal Bleeding

  When an episode is not recognized and treated, internal bleeding, brain damage, skeletal muscle degeneration (rhabdomyolysis) and kidney and heart failure can result. [rarediseases.org]

• 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]

• 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

  Other Names for This Condition CCD CCO Central core myopathy Myopathy, central core Shy's disease Shy-Magee syndrome References Fusto A, Moyle LA, Gilbert PM, Pegoraro E. Cored in the act: the use of models to understand core myopathies. [medlineplus.gov]

  […] neuromuscular disorder that is classified as a congenital myopathy, meaning that it is present at birth (congenital) and is a disorder that causes muscle weakness (myopathy). [rarediseases.org]

• Floppy Muscle

  Affected infants have low muscle tone (hypotonia) resulting in abnormal “floppiness”, muscle weakness and a variety of skeletal abnormalities such as side-to-side curvature of the spine (scoliosis). [rarediseases.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]

  Nerve Conduction Studies: During this test, the motor and sensory nerves are electrically stimulated to assess the ability and the speed of conduction of nerve impulses. It is usually found to be normal in most cases of the central core disease. [icliniq.com]

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

  Neonatal hypotonia MedGen UID: 412209 •Concept ID: C2267233 • Disease or Syndrome Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. [ncbi.nlm.nih.gov]

  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]

Curative treatment is not available for this condition and is managed by supportive and symptomatic treatment through physiotherapy and genetic counseling. [icliniq.com]

Management and treatment Management is mainly supportive and has to anticipate susceptibility to potentially life-threatening reactions to general anaesthesia. [orpha.net]

People with CCD are at risk for malignant hyperthermia (MH) when receiving general anesthesia.[2] Treatment There is no specific treatment but triggering anesthetics are avoided and relatives are screened for RYR1 mutations as these may make them susceptible [wikidoc.org]

Creatine kinase tend to be normal and electromyography (EMG) shows short duration, short amplitude motor unit action potentials.[2] Treatment[edit] There is no specific treatment but triggering anesthetics are avoided and relatives are screened for RYR1 [en.wikipedia.org]

Prognosis In the majority of patients, weakness is static or only slowly progressive, with a favourable long-term outcome. [orpha.net]

[…] 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]

Etiology CCD and MHS are allelic conditions, both caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). [orpha.net]

[…] 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]

However, the lack of response to immunotherapy raised suspicion of another etiology, and muscle biopsy findings suggested MmD. Our patient and her brother partially met the clinical diagnostic criteria of MmD. [e-acn.org]

Summary Epidemiology Prevalence is unknown. Clinical description CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness, pronounced in the hip girdle. [orpha.net]

[…] 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[edit | edit source] Most common type of myopathy: Inflammatory and endocrine myopathies (usually in middle-aged women> men). Prevalence varies between 2.4 to 33.8 per 100,000 population. [physio-pedia.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]

[citation needed] Pathophysiology[edit] Central core disease has an autosomal dominant pattern of inheritance. Central core disease is inherited in an autosomal dominant fashion. [en.wikipedia.org]

Physiotherapy may be helpful in most cases by preventing the development of contractures, maintaining breathing capacity, and delaying the development of spine curvature. [icliniq.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]

Infectious myopathy: This occurs when an infection prevents regular muscle function. Endocrine myopathy: This occurs when hormone imbalances interfere with regular muscle activity. [medicalnewstoday.com]

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