The common cause of congenital myasthenic syndromes is genetics‚ affecting the junction where the nerve triggers muscle activity. The inherited autosomal recessive gene exists in both parents‚ who pass the mutated gene to the offspring. The syndrome appears shortly after birth or early childhood. Severity ranges from minor to increasing concentrations of muscle weakness. There are over twenty different genes known to cause congenital myasthenic syndromes‚ as different as each individual. Sometimes
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Ehlers-Danlos Hypermobility Type: Pathophysiology and Treatment Abstract Ehlers-Danlos syndrome is a degenerative condition caused by the malformation of collagen within the body. Many different types of Ehlers-Danlos syndrome have been linked to different types of collagen malformation in different tissues. Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is the most common type of Ehlers-Danlos syndrome. HT-EDS is mainly characterized by marked joint instability and mild cutaneous involvement
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Alien hand syndrome Alien hand syndrome is a neurological disorder in which one of the sufferer’s hands seems to take on a life of its own. Sometimes the sufferer will not be aware of what the hand is doing until it is brought to his or her attention. Alien hands can perform complex acts such as undoing buttons or removing clothing. Causes: condition is a result from a brain surgical intervention‚ in treatment of w epilepsy. Some reports would also say that this condition can be acquired after
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Calling Memory Into Question: A look at False Memory Syndrome Memory is the mental faculty of retaining and recalling past experiences. A repressed memory is one that is retained in the subconscious mind‚ where one is not aware of it but where it can still affect both conscious thoughts and behavior. When memory is distorted or confabulated‚ the result can be what has been called the False Memory Syndrome: a condition in which a person ’s identity and interpersonal relationships
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Alien Hand Syndrome This is a proposed neurological disorder that is characterized by the affected person’s own hand or hands that seemingly have taken over its own free will or mind of its own.. It happens when someone your hand moves alone. they are not in control of it as if it isn’t part of the body. It is believed that it is a result from a brain surgical intervention‚ in treatment of worst cases of epilepsy. Some reports would also say that this condition can be acquired after a cerebrovascular
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Turner Syndrome is when a baby girl is born with only one complete X chromosome instead of two X chromosome. Scientist are not really sure what causes the other X or Y chromosome disappears but‚ they are certain that it disappears when the baby is conceived inside the womb. Girls with Turner Syndrome are usually diagnosed at a young age or at birth. When baby girls are born with a webbed neck‚ a broad chest‚ widely spaced nipples‚ or heart problems they are tested for TS. Girls with TS only
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Table of contents Introduction……………………………………………………………1 Definition of Foetal Alcohol Syndrome (FAS)………………………..1 Characteristics of FAS…………………………………………………1 Affect of alcohol on the brain………………………………………….1 Affect of FAS on babies………………………………………………..1 The role the South African context has played in FAS………………...1 Conclusion……………………………………………………………...1 Reference List……………………………………………………….…1 Introduction Upon conducting researching for this topic
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Increased Mortality among Widowers by Parkes‚ Benjamin‚ and Fitzgerald was published in the British Medical Journal in 1969. The authors goal was to determine if there was any validity to the “broken heart syndrome” and to discover what the actual mortality rate in connection with the “broken heart syndrome”. The population of this study included widowers 55 years of age and older and the sample used was 4‚486 widowers 55 years of age and older. The study was completely observation as the men were followed
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steroid-dependent and frequently relapsing nephrotic syndrome Shori Takahashi & Naohiro Wada & Hitohiko Murakami & Satoshi Funaki & Tetsuji Inagaki & Kensuke Harada & Michio Nagata Received: 3 March 2006 / Revised: 3 August 2006 / Accepted: 17 August 2006 / Published online: 17 October 2006 # IPNA 2006 Abstract An awareness of the triggers of relapse is critical for the control of steroid-dependent‚ frequently relapsing nephrotic syndrome (SDFRNS). We have investigated the triggers‚ usually
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information. A click away and I was on my way into Ms. Frizzle of the Magic School Bus’s classroom‚ just waiting to be educated. (Of course‚ there are no Magic School Bus books written about Fragile X‚ my newfound rare genetic disease friend.) Fragile X syndrome affects one in four thousand males‚ and one in every eight thousand females around the globe. Its features include learning disability of varying severity‚ and behavioral problems such as hyperactivity and autistic tendencies. Fragile X’s physical
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