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Topic: Myopathy


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In the News (Wed 9 Dec 09)

  
  Myopathy - Wikipedia, the free encyclopedia
In medicine, a myopathy is a neuromuscular disease in which the muscle fibers dysfunction for any one of many reasons, resulting in muscular weakness.
A less severe form of centronuclear myopathy that may present itself at birth or in early childhood progresses slowly and is inherited as an autosomal recessive genetic trait.
The least severe of the three forms of centronuclear myopathy first appears during the second and third decades of life and is slowly progressive; it is inherited as an autosomal dominant genetic trait.
en.wikipedia.org /wiki/Myopathy   (478 words)

  
 Nemaline myopathy - Wikipedia, the free encyclopedia
Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a group of congenital, hereditary neuromuscular disorders that cause muscle weakness, generally nonprogressive, of varying severity.
"Myopathy" means "muscle disease," and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread-like rods, called nemaline bodies, in the muscle cells.
Genetic mutations found to be responsible for the disorder include the alpha-actin gene, the nebulin gene, tropomyosin 2 gene, tropomyosin 3 gene, and troponin T. The physical capabilities of a given person with NM do not correlate well either with genotype or with muscle pathology as observed in the biopsy.
en.wikipedia.org /wiki/Nemaline_myopathy   (846 words)

  
 Myopathy - Pharmpedia
The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber.
Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps).
dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue familial periodic paralysis: characterized by episodes of weakness in the arms and legs polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle.
www.pharmpedia.com /Myopathy   (1056 words)

  
 Myopathy, Desmin Storage
Major symptoms of congenital proximal myopathy associated with desmin storage myopathy are usually apparent at birth (congenital) and may include weakness of the muscles of the face, shoulder, and/or pelvis, and a spine that curves backward and to one side (kyphoscoliosis).
Autosomal dominant desmin distal myopathy with late onset is a progressive muscle disease with symptoms that usually begin around age 40 with weakness of the muscles of the palm at the base of the thumb (thenar) and/or weakness of the muscles that are used to flex the hand.
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
hw.healthdialog.com /kbase/nord/nord1008.htm   (2142 words)

  
 Myotubular Myopathy- Health Encyclopedia and Reference
Myotubular myopathy is a congenital polymyopathy - a disease some people are born with that affects multiple muscles in the body.
The disease is also called centronuclear myopathy because the nuclei of affected muscle cells are found in the center of the cell instead of at the periphery as is true with healthy muscle cells.
Common symptoms of myotubular myopathy are drooping of the upper eyelids, facial weakness and foot drop, flout spells, as well as some weakness of the limbs and trunk.
www.healthcentral.com /encyclopedia/408/548/Myotubular_Myopathy.html   (461 words)

  
 Congenital Myopathy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
Nemaline rod myopathy is a dominantly or recessively inherited, genetic disease characterized by infantile muscle weakness and loss of muscle tone, accompanied by problems in suckling or feeding, delay in walking, and occasionally respiratory problems.
Centronuclear (myotubular) myopathy is an inherited genetic disorder characterized by muscle weakness and loss of tone present at birth or by development of muscle weakness later in infancy.
Patients with nemaline rod myopathy may have a normal life expectancy with progressive weakness, or may die early in infancy from respiratory distress depending upon the severity of the disorder.
www.ninds.nih.gov /disorders/myopathy_congenital/myopathy_congenital.htm   (491 words)

  
 Hollow Visceral Myopathy in a 5-year old Boy: a Case Report   (Site not responding. Last check: 2007-11-01)
Hollow visceral myopathy is a rare clinical entity characterized by impaired intestinal function in the absence of mechanical occlusion.
Hollow visceral myopathy is a rare clinical entity characterized by impaired intestinal function and motility in the absence of mechanical occlusion.1 It is considered a form of chronic intestinal psuedo-obstruction.2 Intestinal psuedo-obstruction encompasses a broad range of disorders and is classified as primary (idiopathic) or secondary when it is due to an underlying disorder.
Prognosis for hollow visceral myopathy is poorer in the neonatal period than in childhood or adulthood.7 Gastrointestinal involvement seems to be the limiting factor in prognosis of such children as parentral nutrition with its associated complications may be required from early neonatal period.
jpma.org.pk /jpma/2Feb03/case2.htm   (1097 words)

  
 Drug-Induced Myopathy
Myopathy and the concurrent administration of corticosteroids and neuromuscular blockers are well described in the intensive care unit (ICU) setting.
Myopathy in the presence of hepatic dysfunction may be severe, disabling, and lead to rhabdomyolysis.20 Risk factors associated with statin-induced myopathy include hepatic failure or renal insufficiency, metabolic enzyme inhibition, and concomitant use of other myotoxic agents.
Chronic alcohol-induced myopathy with myalgia is marked by slowly progressive proximal weakness and is associated with a steady intake of alcohol.
www.uspharmacist.com /oldformat.asp?url=newlook/files/Feat/myopathy.cfm&pub_id=8&article_id=444   (4074 words)

  
 The Beggs Lab - Nemaline Myopathy   (Site not responding. Last check: 2007-11-01)
Nemaline myopathy (NM) is a rare neuromuscular disease that is associated with a broad range of special medical needs, such as weakness of the respiratory muscles and those in the face, arms, legs and the trunk as well as low muscle tone.
Nemaline myopathy may be passed on from parents to children in some families, while in others, it may arise for the first time, with no previous family history of the disorder.
If you are the parent of a child with nemaline myopathy, if you yourself are affected, or if you are the healthcare provider of a patient with nemaline myopathy, you may be able to help us find new genes and proteins associated with nemaline myopathy.
www.chb-genomics.org /hndp/research/beggs/nemalinemyopathy.html   (730 words)

  
 Myopathy, Myotubular
A less severe form of Myotubular Myopathy is present at birth or early childhood, progresses slowly and is inherited as an autosomal recessive genetic trait.
Myotubular Myopathy is a rare muscle wasting disorder that occurs in three different forms based on the severity, how it is inherited, and the range of symptoms.
Evident at birth, Nemaline Myopathy is characterized by weak muscles of the trunk causing the posture to be abnormal.
hw.healthdialog.com /kbase/nord/nord983.htm   (2058 words)

  
 Simple FactSheet: Myopathy, Cardiomyopathy, Myositis
Myopathy has been reported in 6% (around 1 in 20) of people taking Retrovir for more than 6 months, although the problem may have been more frequent when higher doses were used.
A very recent report has shown that Zerit can cause myopathy, but the number of people likely to experience this problem is not yet known for certain.
Like with myopathy, zidovudine is the most commonly reported cause of myositis.
www.atdn.org /simple/myop.html   (582 words)

  
 [No title]
Myopathy with substantial increase in centrally located nuclei as their salient features was first recognized in 1966 in a 12-year-old boy with weakness, including involvement of facial and extraocular muscles, and delayed motor development
The term “centronuclear myopathy” was introduced to describe the disease in two teenage sisters who had weakness, including involvement of the extraocular muscles, and impaired motor development
Although X-linked myotubular myopathy shares the feature of centrally located nuclei with centronuclear myopathy, X-linked myotubular myopathy is related to the MTM1 gene on chromosome Xq28 which codes for the myotubularin protein.
moon.ouhsc.edu /kfung/JTY1/Com04/Com404-1-Diss.htm   (1261 words)

  
 Myopathies
Myopathies refer to a class of degenerative skeletal muscle disease that is not caused by nerve dysfunction.
Symptoms common among myopathies include weakness of the voluntary muscles of the arms, legs, and trunk, drooping upper eyelids, foot drop, facial weakness and lack of reflexes in the affected muscles.
In genetically based Myopathies, the affected families are strongly advised to consult a genetic counselor.
www.tylermedicalclinic.com /myopathies.htm   (381 words)

  
 Myopathy - WrongDiagnosis.com
Myopathy is a general term referring to any disease of muscles.
Myopathies can be acquired or inherited, and can occur at birth or later in life.
With a diagnosis of Myopathy, it is also important to consider whether there is an underlying condition causing Myopathy.
www.wrongdiagnosis.com /m/myopathy/intro.htm   (389 words)

  
 The Beggs Lab - Myotubular Myopathy   (Site not responding. Last check: 2007-11-01)
When myotubular myopathy is inherited in an autosomal recessive fashion, onset is not neonatal, but usually earlier than that of the autosomal dominant form.
Since there are patients with myotubular myopathy with no detectable gene change, it is the purpose of our study to determine what other genes are responsible for the cause of myotubular myopathy, how they can arise and how they are inherited.
If you are the parent of a child with myotubular myopathy, if you yourself are affected, or if you are a healthcare provider of a patient with myotubular myopathy, you may be able to help us to develop better therapies and treatments for this disorder.
www.chb-genomics.org /hndp/research/beggs/mtm.html   (481 words)

  
 Myotubular Myopathy
Myotubular myopathy is a rare muscle-wasting disorder that occurs in three forms based on severity, inheritance, and symptoms.
X-linked myotubular myopathy, the most severe form, is generally present at birth or occurs in infancy.
Autosomal recessive myotubular myopathy is a less severe form that usually occurs during infancy or childhood.
www.webmd.com /hw/health_guide_atoz/nord983.asp   (407 words)

  
 Rhabdo and Myopathy
At the end of investigations, diagnosis of a metabolic myopathy was made in 33 patients: glycogenolysis or glycolysis deficiency in 8 cases, mitochondrial myopathy in 24 cases and CPT II deficiency in one case.
However, its sensitivity was lower for the detection of mitochondrial myopathies, as is also known for the other in vivo metabolic investigations, reflecting the heterogeneity of expression of mitochondrial abnormalities in a given muscle.
Other muscle diseases, muscular dystrophies or myopathies, were detected in 18% of these patients, emphasizing the value of clinical and histopathological examination of patients with previous rhabdomyolysis.
people.bu.edu /sobieraj/ed/RhabdoMyo.html   (627 words)

  
 Myopathy   (Site not responding. Last check: 2007-11-01)
Myotubular myopathy is a neuromuscular condition that is associated with muscle weakness, skeletal...
Myotubular myopathy is a rare muscle-wasting disorder that occurs in three forms based on severity...
Myopathy is defined as any abnormal condition or disease of the muscle tissues...
neuropathytrigeminal.marsneuropathy.com /myopathy   (839 words)

  
 MYOPATHY
Duchenne muscular dystrophy is not associated with reduced IQ Thyrotoxic myopathy occurs in about a third of thyrotoxic patients.
A condition simulating hypokalaemic periodic paralysis may be seen in patients with thyrotoxicosis (especially Orientals), and when the thyrotoxicosis is of autoimmune origin, other organ-specific autoimmune diseases such as myasthenia gravis.
Myotonic dystrophy is the commonest inherited myopathy in adults with an incidence of 10 per 100,000.
www.aippg.net /forum/viewtopic.php?t=38797   (859 words)

  
 Myopathy - New Treatments, May 2, 2006
The dose and type of blocking agent used was not significantly associated with the occurrence of myopathy.
The mechanism for the myopathic effect is uncertain, although its main mode of action, inhibition of mevalonate, a precursor of ubiquinone which is a central compound of the mitochondrial respiratory chain, implicates a mitochondrial origin.
Combination of niacin and statins have produced the most dramatic effect on blood cholesterol, however, there have been sporadic reports of severe myopathy and rhabdomyolysis; careful monitoring of CK levels and education patient regarding the symptoms of myopathy are important 5.
www.ccspublishing.com /journals3a/myopathy.htm   (1467 words)

  
 Mitochondrial myopathy definition - Medical Dictionary definitions of popular medical terms
Mitochondrial myopathy: A group of neuromuscular diseases caused by damage to the mitochondria, energy-producing structures in cells that serve as power plants.
Some of the more common mitochondrial myopathies include the Kearns-Sayre syndrome, myoclonic epilepsy with ragged-red fibers, and the MELAS syndrome of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
Aside from muscle weakness and exercise intolerance, the symptoms of mitochondrial myopathy may include nausea, vomiting, headache, seizures, stroke-like episodes, and dementia; droopy eyelids, limited mobility of the eyes, blindness, and deafness; heart failure and heart rhythm disturbances (arrhythmias); and movement disorders.
www.medterms.com /script/main/art.asp?articlekey=6374   (247 words)

  
 Myopathy definition - Medical Dictionary definitions of popular medical terms
The most common form of muscular dystrophy, for example, is an inherited myopathy; it is due to mutation of a gene on the X chromosome.
The mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria, energy-producing structures in cells that serve as power plants.
Other myopathies are metabolic; they result from disturbances in metabolism.
www.medterms.com /script/main/art.asp?articlekey=4492   (159 words)

  
 MYOTUBULAR MYOPATHY: Contact a Family - for families with disabled children: information on rare syndromes and disorders
Myotubular Myopathy is a congenital myopathy, one of a group of conditions causing weakness and wasting of the muscles with symptoms usually present at birth.
Myotubular Myopathy is so called because the affected muscle fibres look like myotubes (muscle cells found only during fetal development when the fetus is between twelve to twenty weeks old).
The condition is also known as 'centronuclear myopathy' because the nuclei of affected muscle cells are found in the centre of each cell instead of the periphery (as occurs in healthy muscle cells).
www.cafamily.org.uk /Direct/m60.html   (958 words)

  
 Congenital Myopathy - Childhood Disease Genetic Research Congenital Myopathy
Joshua is among thousands of children that are born with one of hundreds of congenital myopathies.
Recent experiments have provided tantalizing evidence that skeletal muscle from boys with myotubular myopathy may have increased numbers of stem cells which are thought to repopulate damaged muscle.
Myotubular myopathy is exactly the type of disorder that may be treatable by this approach and the Boston team will soon be receiving a unique strain of "myotubular myopathy mice" with which to test this method.
www.joshuafrase.org /congenital-myopathy.html   (1517 words)

  
 The Congenital Myopathy Site--Types
As with all myopathies, the degree of weakness may vary greatly from one person to another.
Nemaline Myopathy is sometimes called Nemaline Rod Myopathy because of the thread-like structures found in the muscle.
Also known as Centronuclear Myopathy, myotubular myopathy is so called because parts of the muscle resemble the "myotubes" of fetal muscle.
webpages.charter.net /mccawthon/types.htm   (624 words)

  
 Article: NINDS Myopathy Information Page: NINDS - CureResearch.com
General symptoms of myopathy include weakness of limbs, usually proximal (located close to the center of the body).
In the inherited myopathies, some family members may be unaffected, while other family members may have a range of symptoms.
Myopathy can result from endocrine disorders, metabolic disorders, infection or inflammation of the muscle, certain drugs, and mutations in genes.
www.cureresearch.com /artic/ninds_myopathy_information_page_ninds_printer.htm   (373 words)

  
 Dr. Koop - Myotubular Myopathy- Health Encyclopedia and Reference
Their identification has been made possible by the histochemical study of frozen (cryostat) sections of muscle biopsies and by electron microscopy.
The name myotubular myopathy comes from the appearance of affected muscle fibers that resemble myotubes, a type of fiber found only in fetal development.
The members of this group of relatively nonprogressive congenital myopathies are central-core myopathy, nemaline myopathy, the mitochondrial myopathies, myotubular myopathy, and other even rarer types (reducing body, fingerprint, zebra body, sarcotubular).
www.drkoop.com /encyclopedia/93/548.html   (451 words)

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