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Cetral

Category: Allergies

Description

Zyrtec is used in the treatment of hay fever; urticaria and belongs to the drug class antihistamines.

Active Ingredient: Cetirizine

Zyrtec (Cetral) as known as: Aceterin, Acidrine, Acitrin, Acura, Adezio, Agelmin, Alairgix, Alarex, Alatrex, Alatrol, Alenstran, Aleras, Alercet, Alercina, Alerdif, Alerfrin, Alergizina, Alergoxal, Alerid, Alerlisin, Alermed, Alermizol nf, Alernadina, Alero, Alertek, Alertop, Alerviden, Alerza, Alerzin, Alerzina, Alesof-10, Allecet, Allercet, Allergica, Allerid c, Allermine, Allerset, Allertec, Alnix, Alnok, Alzytec, Amazina, Amefar, Amertil, Analergin, Arhin, Artiz, Arzedyn, Asitrol, Asytec, Atopix, Atrizin, Atrol, Benaday, Betarhin, Betek, Blezamont, Cabal, Celay, Celerg, Ceratio, Cerchio, Cerex, Cerini, Cerizina, Certirec, Cesil, Cet eco, Cetaler, Cetalerg, Cetgel, Ceti-puren, Ceticad, Cetidac, Cetiderm, Cetidura, Cetigen, Cetihexal, Cetihis, Cetilich, Cetimax, Cetimerck, Cetinal, Cetinax, Cetiozone, Cetir, Cetiram, Cetirax, Cetirgen, Cetirigamma, Cetirinax, Cetiristad, Cetirivax, Cetiriz, Cetirizin, Cetirizina, Cetirizindi, CĂ©tirizine, Cetirizini, Cetirizinum, Cetirlan, Cetirocol, Cetitev, Cetizin, Cetizine, Cetlertec, Cetolerge, Cetral, Cetralon, Cetrikem, Cetril, Cetriler, Cetrin, Cetrine, Cetrivax, Cetriwal, Cetrixal, Cetrixin, Cetrizen, Cetrizet, Cetrizin, Cetrizine, Cetro, Cetryn, Cidron, Ciritex, Cirizine, Citin, Cizin, Coolips, Cotalil, Coulergin, Deallergy, Dermizin, Doccetiri, Dorotec, Dyno, Dyzin, Egirizin, Ekon, Estin, Etizin, Falergi, Finallerg, Findaler, Flexmed, Formistin, Gardex, Gentiran, Glotrizine, Habitek, Hamiltosin, Heinix, Helvecin, Hisaler, Hista-x, Histafren, Histal, Histalen, Histasin, Histatec, Histax, Histazine, Histec, Histek, Histimed, Histrine, Hitrizin, Hyperpoll, Incidal-od, Intrizin, Kalven, Kenicet, Kilsol, Kruzin, Lambeta, Lergium, Lergy, Lerzin, Letizen, Levoc, Merzin, Mycetra, Noler, Nosemin, Okacet, Omcet, Oncet, Ontin, Optiser, Orgy, Ozen, Parlazin, Piriteze, Pollenshield, Procet, Ralizon, Ratioalerg, Reactine, Remitex, Ressital, Revicet, Rhinil, Rhinodina, Rhizin, Rigotax, Risina, Riz, Rizin, Rydian, Rynset, Ryvel, Ryzen, Ryzicor, Ryzo, Salvalerg, Sanaler, Satrol, Senirex, Setiral, Siterin, Sixacina, Spatanil, Stopaler, Symitec, Talerdin, Talert, Talzic, Telarix, Terizin, Texa, Tiramin, Tiritek, Tiriz, Tirizin, Tolmex, Tradaxin, Trin, Triz, Trizin, Ubercet, Vialerg, Virlix, Vitinelin, Yenizin, Zalan, Zeda, Zeran, Zertazine, Zertine, Zetalerg, Zetir, Zetop, Zetri, Zetrinal, Zinal, Ziptek, Zirpine, Zirtec, Zirtek, Zirtene, Zirtraler, Znupril, Zodac, Zyllergy, Zyncet, Zynor, Zyrfar, Zyrlex, Zyrtec-d, Zyrtecset, Zyx

Central Nervous System Disorders & Diseases

Central Nervous System Diseases & Nerve Disorders

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Central Nervous System diseases affect millions of Americans. Diseases of the nervous system can range from the nerve disorder that causes Tourette's to the serious CNS disease of Alzheimer's. What diseases affect the central nervous system? Central Nervous system disorders aren't something to take lightly. CNS disorders can seriously affect the brain, spinal cord, and nerve endings in your body. Feel free to use this list as a starting point to make your own medical diseases flash card list. Diseases of the central nervous system are horrible but there are other diseases you should be aware of. One for example is AIDS which is sexually transmitted and you can see more information about that at the aids symptoms page. Another one that affects so many people is Chrone's Disease which you can find the symptoms of at the Chrone's disease page. Finally, take a look at the most common illnesses as its much more likely that you may be affected by one of those.


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Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioral symptoms. Symptoms of the disease can vary between individuals and affected members of the same family, but usually progress predictably. The earliest symptoms are more

Pituitary adenomas are tumors that occur in the pituitary gland. Pituitary adenomas are generally divided into three categories dependent upon their biological functioning: benign adenoma, invasive adenoma, and carcinomas, with carcinomas accounting for 0.1% to 0.2%, approximately 35% being invasive more

Wernicke–Korsakoff syndrome, also called wet brain, Korsakoff's psychosis, and alcoholic encephalopathy, is the combined presence of Wernicke's encephalopathy and Korsakoff's syndrome. Due to the close relationship between these two disorders, patients suffering from both are usually diagnosed with more

Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper more

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Cetral, Cetirizine Hcl

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For the treatment of perennial rhinitis, seasonal allergic rhinitis (hay fever) and chronic idiopathic urticaria in adults and children aged 12 years and over.

Cetirizine is contraindicated in patients who are hypersensitive to cetirizine, hydroxyzine or any constituent of the tablets. Cetirizine has been reported to be excreted in human breast milk. Cetirizine is contraindicated in lactating women, due to lack of evidence of safety.

Theophylline decreases the clearance of cetirizine although the disposition of theophylline is not affected. In common with other antihistamines it is recommended that excessive alcohol consumption be avoided. Concurrent use of cetirizine with other CNS depressants should also be avoided as reduction in alertness and impairment of performance may occur. No evidence of interactions with antipyrine, azithromycin, cimetidine, diazepam, erythromycin, ketoconazole and pseudoephedrine has been reported.

Dosage adjustment is necessary in patients with moderate or severe renal impairment and in liver impairment. Patients with rare hereditary problems of galactose intolerance, the Lapp lactase deficiency or glucose-galactose malabsorption should not take this medicine.

Central Core Disease - NORD (National Organization for Rare Disorders)

Synonyms of Central Core Disease
  • CCD
  • CCO
  • Central Core Disease of Muscle
  • Muscle Core Disease
  • Muscular Central Core Disease
  • Myopathy, Central Core
  • Myopathy, Central Fibrillar
  • Shy-Magee Syndrome
General Discussion

Central core disease (CCD) is a rare genetic neuromuscular disorder that is classified as a congenital myopathy, meaning that it is a muscle disorder (myopathy) that is present at birth (congenital). Affected infants have diminished 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). Muscle weakness normally affects the proximal muscles, which are those muscles closest to the center of the body such as the muscles of the shoulder, pelvis and upper arms and legs. Affected infants may experience delays in acquiring motor milestones such as crawling or walking. Some individuals with CCD may be susceptible to developing malignant hyperthermia, a condition in which individuals develop adverse reactions to certain anesthetic drugs. CCD may be very mild or may cause serious complications. Most cases are inherited as autosomal dominant trait and associated with nonprogressive muscle disease and a favorable prognosis. Some cases are inherited as autosomal recessive traits and are more likely to be associated with severe complications.

The disorder derives its name from characteristic, abnormal areas within the centers of muscle fibers. These abnormal "central cores" are detected during microscopic examination of small samples of muscle tissue (muscle biopsy). Such study may reveal characteristic findings such as a lack of mitochondria, the parts of the cells that release energy, or absence of the sarcoplasmic retiuculum, an internal membrane of muscle fibers.

Signs & Symptoms

The specific symptoms and their severity may vary greatly from case to case. Some individuals may develop very mild muscle disease that may go unnoticed; others may develop serious muscle disease that can delay motor milestones or cause serious breathing (respiratory) difficulties. In most cases, muscle weakness in CCD is not progressive or only progresses very slowly.

Infants with CCD typically have diminished muscle tone (hypotonia), resulting in abnormal “floppiness”. Weakness of the proximal muscles occurs early during infancy. The proximal muscles are those muscles closest to the center of the body such as the muscles of the shoulder, pelvis and upper arms and legs. In CCD, the hip-girdle area is especially affected by muscle weakness. In some cases, muscle cramps or stiffness may occur especially upon exertion. Muscles weakness may cause delays in acquiring milestones that require the coordination and development of muscles (motor milestones) such as crawling, standing and walking. Intelligence is unaffected.

Certain facial muscle may be affected in individuals with CCD. In rare cases, individuals may develop wasting of facial muscles. Mild facial muscle involvement may not be noticeable, except for the inability to bury the eyelashes. In classic, autosomal dominant CCD, the muscles around the eyes are not affected, an important finding that distinguishes CCD from other congenital myopathies. In the autosomal recessive form of CCD, these muscles may be affected.

A variety of skeletal abnormalities often occur in individuals with CCD including abnormal side-to-side curvature of the spine (scoliosis) and congenital dislocation of the hip, a condition in which the hip joint is too shallow causing the upper bone of the leg (femur) to pop out of the joint. These skeletal findings may be present at birth. Additional skeletal symptoms may occur including front-to-back curvature of the spine (kyphosis), dislocation of the kneecap (patella), clubfoot (talipes equinovarus), flattening of the arch of the foot (flatfoot or pes panus), and an abnormally high arch of the foot (pes cavus). Abnormal tightening of certain joints, resulting in restricted or stiff movements (contractures) may occur in rare cases. The Achilles tendon is most common site for contracture.

Some cases of CCD may present with severe symptoms at birth or early during infancy. Severe symptoms associated with CCD may be caused by a prolonged decrease or absence of movements by the fetus (fetal akinesia sequence). Such symptoms include profoundly diminished muscle tone (hypotonia or floppiness), reduced mobility of many joints of the body due to the overgrowth (proliferation) of fibrous tissue in the joints (arthrogryposis multiplex congenital), and breathing (respiratory) difficulties that may require a mechanical device to assist breathing. In some cases of severe CCD, affected infants may not be able to walk independently. Severe cases of CCD are more likely to be inherited as autosomal recessive traits.

Individuals with CCD have susceptibility to developing malignant hyperthermia, an autosomal dominant genetic disorder in which affected individuals are susceptible to adverse reactions to certain anesthetic drugs. The drugs that trigger malignant hyperthermia are the volatile inhalation gases including sevoflurane, desflurane, isoflurane, halothane, enflurane, methoxyflurane and depolarizing muscle relaxants such a succinylcholine. The characteristics of a malignant hyperthermia episode are variable and include muscle rigidity, high blood pressure (hypertension), increased levels of carbon monoxide in the blood or exhaled gas, a rapid irregular heart rate, rapid deep breathing, blue skin, acidity of the blood and muscle damage. Body temperature can rise rapidly (hyperthermia), but sometimes only occurs late in an episode. When an episode is not recognized and treated, internal bleeding, brain damage, skeletal muscle degeneration (rhabdomyolysis), and kidney and heart failure can result.

Causes

In most cases, central core disease is inherited an autosomal dominant trait. Some cases are inherited as an autosomal recessive trait and are usually associated with more severe symptoms.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25 percent with each pregnancy. The risk to have a child who is a carrier like the parents is 50 percent with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25 percent. The risk is the same for males and females.

Less commonly, CCD may appear to occur spontaneously for unknown reasons (sporadically) in the absence of any apparent family history of the disorder.

Investigators have determined that CCD is caused by mutations of the ryanodine receptor (RYR1) gene located on the long arm (q) of chromosome 19 (19q13.1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further subdivided into many bands that are numbered. For example, “chromosome 19q13.1” refers to band 13.1 on the long arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

The RYR1 gene regulates production of a protein (known as a calcium-release channel) that plays an essential role in calcium regulation in skeletal (voluntary) muscle. Certain changes (mutations) of the RYR1 gene are thought to result in abnormalities in the normal flow of electrically charged particles known as calcium ions through pores in cell membranes (calcium channels), potentially leading to impaired maturation of skeletal muscle, abnormalities in muscle contraction, and other symptoms and findings associated with the disorder. Investigators suggest that most cases of CCD may be due to certain RYR1 gene mutations. In addition, mutations in the same gene appear to be responsible for over 50 percent of cases in which people have susceptibility to malignant hyperthermia (allelic disorder). (For further information on malignant hyperthermia, please use “hyperthermia” as your search term in the Rare Disease Database.)

Affected Populations

Central core disease affects males and females in equal numbers. The exact incidence and prevalence of CCD is unknown. CCD is believed to be the most common form of congenital myopathy, which as a group occurs in 6 out of every 100,000 live births.

The disorder was originally described in 1956 (Shy GM, Magee KR) in five members in three successive generations of a family. However, the disease entity was not termed “central core disease” until later.

Related Disorders

Symptoms of the following disorders can be similar to those of central core disease. Comparisons may be useful for a differential diagnosis.

Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease that is apparent at birth (congenital myopathy). Major symptoms may include loss of muscle tone (hypotonia) and generalized muscle weakness. Affected infants may also have distinctive facial features. Additional common symptoms that occur include abnormal side-to-side curvature of the spine (scoliosis), delays in motor development, dislocated hips, and the permanent fixation of certain joints in a flexed position (contractures). The diagnosis of congenital fiber type disproportion is controversial. The changes to muscle tissue that characterize the disorder can also occur in association with many other disorders or conditions including other congenital muscle disorders, Krabbe disease, Lowe’s syndrome, myotonic dystrophy, fetal alcohol syndrome, and a variety of brain malformations such as cerebellar hypoplasia. However, in many cases, no underlying cause can be identified. In these cases, CFTD is considered distinct muscle disease. Most cases of CFTD occur randomly for no apparent reason (sporadically). Some cases are inherited as an autosomal recessive or dominant trait. One familial case was inherited as an X-linked recessive trait. (For more information on this disorder, choose “congenital fiber type disproportion” as your search term in the Rare Disease Database.)

Multi-minicore disease, also known as minicore myopathy or multicore myopathy, is a rare genetic muscle disorder. Four subtypes have been identified. The most common form, or classic form, accounts for approximately 75 percent of cases. Common symptoms include diminished muscle tone (hypotonia) resulting in “floppiness”, muscle weakness, and delays in reaching developmental milestones. Some individuals may develop breathing (respiratory) or feeding difficulties. Additional findings include side-to-side curvature of the spine (scoliosis) and spinal rigidity. Microscopic examination of small samples of muscle tissue (muscle biopsy) typically reveals multiple variants of central cores, known as “minicores”, within muscle fibers. Multi-myopathy disease is thought to be inherited as an autosomal recessive trait. The disorder has been linked to two genes: the selenoprotein N1 (SEPN1) gene and the ryanodine receptor 1 (RYR1) gene.

Congenital myopathy is a group of muscle disorders (myopathies) that are present at birth (congenital). These disorders are characterized by muscle weakness, loss of muscle tone (hypotonia), diminished reflexes, and delays in reaching motor milestones (e.g. walking). In some disorders, muscle weakness is progressive and may result in life-threatening complications. This group of disorders includes nemaline rod myopathy, hyaline body myopathy, centronuclear myopathy, congenital fiber type disproportion, and minimulticore myopathy. Congenital myopathies are usually apparent in the newborn (neonatal) period, but may present much later in life even in adulthood. In most cases, inheritance of these disorders is either autosomal recessive or autosomal dominant. (For more information on this disorder, choose the specific disorder name as your search term in the Rare Disease Database.)

Central core disease may be diagnosed based upon a thorough clinical evaluation, detection of characteristic physical findings (e.g. muscle weakness), patient and family history, and specialized tests especially characteristic findings in affected muscle tissue. The disorder may be diagnosed during the first years of life; however, not infrequently, it may not be recognized until later during childhood, adolescence, or adulthood, such as due to certain associated musculoskeletal abnormalities.

Small samples of muscle tissue may be surgically removed (biopsied) and examined microscopically with the use of special stains (histochemistry). In cases of CCD, such microscopic evaluation typically reveals dense, ill-defined areas within the central portion of muscle fibers (“central cores”) that contain myofibril material. (Muscle fibers are the thread-like muscle cells within skeletal muscle comprised of slender, usually highly organized strands known as myofibrils.) These altered regions or central cores within muscle fibers may appear to lack enzyme activity, contrasting with normal activities in surrounding fibers. (Enzymes are proteins that accelerate particular chemical activities in the body.) In addition, absence of certain cellular structures known as mitochondria may be confirmed with an electron microscope, which uses electron beams rather than visible light for increased magnification. Mitochondria are the rod-like structures (organelles) outside the nuclei of cells that serve as a primary source of cellular energy due to their complex, continual chemical reactions. As a result, they are important to the proper functioning of muscle cells, including those of skeletal muscle.

Additional diagnostic studies may include blood tests, electromyography (EMG), nerve conduction velocity studies, and/or other tests. In those with CCD, blood studies typically reveal normal or slightly increased levels of the enzyme creatine kinase in the fluid portion of the blood (except during a malignant hyperthermic crisis). EMG is a test that records electrical activity in skeletal (voluntary) muscles at rest and during muscle contraction. Reports indicate that EMG results may be almost normal in those with CCD, particularly in younger children; however, the recorded electrical activity developed in certain muscle fibers during activity (motor unit action potential) may be of unusually short duration and low amplitude. 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. Evidence indicates that the results of such a study are usually normal in those with CCD.

Additional diagnostic studies may also be recommended to help confirm the diagnosis and detect and/or characterize particular abnormalities that may be associated with the disorder. For example, advanced imaging techniques may be conducted to characterize certain skeletal abnormalities.

No cure for CCD exists. Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, dental specialists, speech pathologists, specialists who asses and treat hearing problems (audiologists), eye specialists and others may need to systematically and comprehensively plan an affect child’s treatment.

Specific therapies for the treatment of CCD are symptomatic and supportive. In cases of hypotonia “floppiness” during infancy, disease management may require careful attention to posture, the use of appropriate adaptive seating with careful trunk and head support, and other measures.

Infants with hypotonia and muscle weakness may also benefit from a program involving mild-to-moderate, low-impact exercise, massage, and stretching techniques. Such therapy is aimed at preserving muscle strength and function and to prevent the development of contractures.

In addition, for infants with extremely severe weakness, breathing (respiratory) support may be necessary potentially including mechanical ventilation. Any respiratory infections must be promptly treated to avoid complications. Since individuals with severe weakness may experience feeding difficulties, tube-feeding may be required to ensure proper caloric and nutritional intake.

In some cases, various orthopedic techniques, such as the use of special braces, other devices, and/or surgical measures, may be recommended to help prevent and/or treat certain musculoskeletal abnormalities such as scoliosis, clubbed foot, or congenital dislocation of the hip. In some cases, when conservative measures fail, surgical intervention may be required.

Because most 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 making decisions concerning surgery, the use of particular anesthetics, and the administration of certain medications. Any surgical procedure, including dental surgery, must be performed in a setting that is well monitored by anesthesiologists with necessary precautions to help prevent or appropriately manage a possible malignant hyperthermic event.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Diagnosis

Central core disease (CCD) may be diagnosed based upon a thorough clinical evaluation, detection of characteristic physical findings, patient and family history, and specialized tests. The disorder may sometimes be diagnosed during the first years of life; however, not infrequently, it may not be recognized until later during childhood, adolescence. or adulthood, such as due to certain associated musculoskeletal abnormalities (see "Symptoms").

Diagnostic studies may include blood tests, electromyography (EMG), nerve conduction velocity studies, muscle biopsies, and/or other tests. In those with CCD, blood studies typically reveal normal or slightly increased levels of the enzyme creatine kinase in the fluid portion of the blood (except during a malignant hyperthermic crisis). EMG is a test that records electrical activity in skeletal (voluntary) muscles at rest and during muscle contraction. Reports indicate that EMG results may be almost normal in those with CCD, particularly in younger children; however, the recorded electrical activity developed in certain muscle fibers during activity (motor unit action potential) may be of unusually short duration and low amplitude. 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. Evidence indicates that the results of such a study are usually normal in those with CCD.

Small samples of muscle tissue are also removed and examined microscopically with the use of special stains (histochemistry). In cases of CCD, such microscopic evaluation typically reveals dense, ill-defined areas within the central portion of muscle fibers ("central cores") that contain myofibril material. (Muscle fibers are the thread-like muscle cells within skeletal muscle comprised of slender, usually highly organized strands known as myofibrils. These altered regions or central cores within muscle fibers may appear to lack enzyme activity, contrasting with normal activities in surrounding fibers. (Enzymes are proteins that accelerate particular chemical activities in the body. In addition, absence of certain cellular structures known as mitochondria may be confirmed with an electron microscope, which uses electron beams rather than visible light for increased magnification. Mitochondria are the rod-like structures (organelles) outside the nuclei of cells that serve as a primary source of cellular energy due to their complex, continual chemical reactions. As a result, they are important to the proper functioning of muscle cells, including those of skeletal muscle.

Additional diagnostic studies may also be recommended to help confirm the diagnosis and detect and/or characterize particular abnormalities that may be associated with the disorder. For example, advanced imaging techniques may be conducted to characterize certain skeletal abnormalities.

Standard Therapies

The treatment of central core disease (CCD) is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; specialists who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues in children (pediatric orthopedists); physicians who specialize in physical medicine and rehabilitation (physiatrists); physical therapists; occupational therapists; and/or other health care professionals.

Specific therapies for the treatment of CCD are symptomatic and supportive. In cases of "floppiness" during infancy, disease management may require careful attention to posture, the use of appropriate adaptive seating with careful trunk and head support, and other measures. In addition, for infants with extremely severe weakness, tube-feeding may be required to ensure proper caloric and nutritional intake.

In some cases, various orthopedic techniques, such as the use of special braces, other devices, and/or surgical measures, may be recommended to help prevent and/or treat certain musculoskeletal abnormalities potentially associated with the disorder. Family-centered, early intervention services may also be advised, such as physical and occupational therapy, including assistance with seating and mobility devices; instruction for parents on properly handling, exercising, and stretching certain muscles; and/or other measures as appropriate.

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 making decisions concerning surgery, the use of particular anesthetics, and the administration of certain medications. Any surgical procedure, including dental surgery, must be performed in a setting that is well monitored by anesthesiologists with necessary precautions to help prevent or appropriately manage a possible malignant hyperthermic event.

Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

For information about clinical trials sponsored by private sources, contact:

Eng GD. Central Core Disease. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:607-8.

Rimoin D, Connor JM, Pyeritz RP, Korf BR. Eds. Emory and Rimoin’s Principles and Practice of Medical Genetics. 4th ed. Churchill Livingstone. New York, NY; 2002:3332-6.

Adams RD, et al. eds. Principles of Neurology. 6th ed. New York, NY: McGraw-Hill Companies, Inc.; 1997:1452.

Behrman RE, et al. eds. Nelson Textbook of Pediatrics. 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1743-44.

Wyngaarden JB, et al. eds. Cecil Textbook of Medicine. 19th ed. Philadelphia, PA: W.B. Saunders Company; 1992:2256.

Wu S, Ibarra MC, Malicdan MC, et al. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006;129:1470-1480.

Zhou H, Yamaguchi N, Xu L, et al. Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006;15:2791-803.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006;27:977-989.

Talwalkar SS, Parker JR, Heffner RR, Parker JC. Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature. Clin Neuropathol. 2006;25:180-184.

Romero NB, Herasse M, Monnier N, et al. Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. Acta Myol. 2005;24:70-73.

Jungbluth H, Davis MR, Muller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord. 2004;14:785-790.

Romero NB, Monnier N, Viollet L, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003;126:2341-2349.

Muntoni F, Sewry CA. Central core disease: new findings in an old disease. Brain. 2003;126:2339-2340.

Quinlivan RM, Muller CR, Dvais M, et al. Central core disease: clinical, pathological, and genetic features. Arch Dis Child. 2003;88:1051-1055.

Davis MR, Haan E, Jungbluth H, et al. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003;13:151-157.

Jungbluth H, Muller CR, Halliger-Keller B, et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology. 2002;59:284-287.

Celesia GG. Disorders of membrane channels or channelopathies. Clin Neurophysiol. 2001;112:2-18.

McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat. 2000;15:410-417.

Mulley JA, Kozman HM, Phillips HA, et al. Refined genetic localization for central core disease. Am J Hum Genet. 1993;52:398-405.

FROM THE INTERNET

Malicdan MCV, Nishino I. Updated:5/16/2007. Central Core Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2003. Available at http://www.genetests.org.

Jungbluth H. Central core disease. Orphanet encyclopedia, May 2007. Available at: http://www.ojrd.com/content/2/1/25 Accessed on: August 14, 2007.

McKusick VA. ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:117000; Last Update:10/10/2006. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117000 Accessed on: August 14, 2007.

Years Published

1986, 1990, 1992, 1994, 2001, 2003, 2007

The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.

The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.

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Central core disease - Genetics Home Reference

central core disease

Central core disease is a disorder that affects muscles used for movement (skeletal muscles ). This condition causes muscle weakness that ranges from almost unnoticeable to very severe.

Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affects the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. Muscle weakness causes affected infants to appear "floppy" and can delay the development of motor skills such as sitting, standing, and walking. In severe cases, affected infants experience profoundly weak muscle tone (hypotonia) and serious or life-threatening breathing problems. Central core disease is also associated with skeletal abnormalities such as abnormal curvature of the spine (scoliosis ), hip dislocation, and joint deformities called contractures that restrict the movement of certain joints.

Many people with central core disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly.

Central core disease gets its name from disorganized areas called cores, which are found in the center of muscle fibers in many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of cores can help doctors diagnose central core disease. it is unclear how they are related to muscle weakness and the other features of this condition.

Related Information Frequency

Central core disease is probably an uncommon condition, although its incidence is unknown.

Related Information Genetic Changes

Mutations in the RYR1 gene cause central core disease .

The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. The ryanodine receptor 1 protein forms a channel that releases calcium ions stored within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract, allowing the body to move.

Mutations in the RYR1 gene change the structure of ryanodine receptor 1, allowing calcium ions to "leak" through the abnormal channel or impairing the channel's ability to release stored calcium ions at the correct time. This disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of central core disease .

Learn more about the gene associated with central core disease

Central core disease is most often inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Less commonly, central core disease is inherited in an autosomal recessive pattern. which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. People who carry one mutated copy of the RYR1 gene, however, may be at increased risk for malignant hyperthermia .

Related Information Diagnosis & Management

These resources address the diagnosis or management of central core disease:

These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:

Related Information Other Names for This Condition
  • CCD
  • CCO
  • Central Core Myopathy
  • Myopathy, Central Core
  • Shy-Magee Syndrome
Related Information Additional Information & Resources MedlinePlus (3 links) Genetic and Rare Diseases Information Center (1 link) Additional NIH Resources (1 link) Educational Resources (3 links) Patient Support and Advocacy Resources (5 links) Gene Reviews (1 link) Genetic Testing Registry (1 link) ClinicalTrials.gov (1 link) Scientific articles on PubMed (1 link) OMIM (1 link) Sources for This Page Images

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional .

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