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Muscular Dystrophy

Definition:
Muscular dystrophy (MD) is a group of rare diseases.It refers to a group of genetic, hereditary muscle diseases that cause progressive muscle fiber weakness and break down. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. Nine diseases including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss are always classified as muscular dystrophy but there are more than 100 diseases in total with similarities to muscular dystrophy. Most types of MD are multi-system disorders with manifestations in body systems including the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs

There are many different types of muscular dystrophy (MD) – a group of conditions that progressively affect the muscles.Most are inherited and they vary in severity depending on type.There are no cures and no treatments to correct the loss of muscle cells that occur in MD.But a great deal can be done to help limit the effects.

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MD affects the skeletal or voluntary muscles that control movement in the arms, legs and trunk. It also can affect the heart and other involuntary muscles, such as those in the gut. MD passes from parent to child (genetic) and gets worse over time (progressive). There are nine major types of MD affecting people of all ages, from infancy to middle age or later. The two most common types of MD affect children: Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD, Both DMD and BMD affect boys almost exclusively, but in rare cases can also affect girls.

Causes:
Most are caused by mutations in genes involved in muscle structure and function.In some types of MD both the father and mother must have a faulty gene to pass it on, which is called recessive inheritance.In other types, it only needs one parent to pass on a faulty gene, which is called dominant inheritance.In one type, called Duchenne muscular dystrophy, the mother usually passes the faulty gene on to her son through the female sex chromosome, the X-chromosome.Sometimes the abnormal genes appear for the first time without having been passed down by either paren. Most type are caused byfaulty DNA

These conditions are inherited, and the different muscular dystrophies follow various inheritance patterns. The best-known type, Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must generally be present in both copies of the gene to cause the disorder (relatively rare exceptions, manifesting carriers, do occur due to dosage compensation/X-inactivation). Males are therefore affected by X-linked recessive disorders much more often than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two thirds of DMD cases, an affected male inherits the mutation from a mother who carries one altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene. Females who carry one copy of a DMD mutation may have some signs and symptoms related to the condition (such as muscle weakness and cramping), but these are typically milder than the signs and symptoms seen in affected males. Duchenne muscular dystrophy and Becker’s muscular dystrophy are caused by mutations of the gene for the dystrophin protein and lead to an overabundance of the enzyme creatine kinase. The dystrophin gene is the largest gene in humans.

Symptoms:
Principal symptoms include:

* Progressive Muscular Wasting (weakness)
* Poor Balance
* Frequent Falls
* Walking Difficulty
* Waddling Gait
* Calf Pain
* Limited Range of Movement
* Muscle Contractures
* Respiratory Difficulty
* Drooping Eyelids (ptosis)
* Gonadal Atrophy
* Scoliosis (curvature of the spine)
* Inability to walk

Some types of Muscular Dystrophy can affect the heart, causing cardiomyopathy or arrhythmias.

What may goe wrong?
These gene problems lead to damaged muscle cells that do not work properly.This may cause difficulty walking, clumsiness, frequent falls, difficulty standing and breathing problems.
However, the symptoms and their severity vary with the different types of MD.

Some of the different types of MD:

* Congenital MD – are a group of conditions in which symptoms are apparent at birth or within the first six months. The muscle weakness causes the baby to appear floppy.

* Duchenne MD – caused by an error in a gene called dystrophin and usually affects only boys, although there are rare cases in girls. It affects the muscles of the pelvis and thighs first, causing difficulty in walking between the ages of one and three.

* Becker MD – rarely affects people before the age of 10, and is considered a milder form than Duchenne MD. Again, it mainly affects boys.

* Emery-Dreifuss – typically starts in childhood or adolescence. The heart can also be affected.

* Facioscapulohumeral MD – affects facial (facio), shoulder (scapul) and upper arm (humeral) muscles, although the legs can sometimes be affected too.

* Oculopharyngeal MD – affects the eye (ocular) and throat (pharyngeal) muscles, with the first signs, such as droopy eyelids and difficulty swallowing, developing when the person is aged 50-60.

Who is affected?

Overall, about 1 in 2,000 babies born in the UK will have a neuromuscular disorder.
Duchenne MD is the commonest and most severe form. Around 100 boys are born with the condition in the UK each year .

Diagnosis:
The diagnosis of muscular dystrophy is based on the results of a muscle biopsy. In some cases, a DNA blood test may be all that is needed.A physical examination and the patient’s medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

Treatment:
There is no known cure for muscular dystrophy. Inactivity (such as bed-rest and even sitting for long periods) can worsen the disease. Physical therapy, Occupational therapy, speech therapy and orthopedic instruments (e.g., wheelchairs, standing frames) may be helpful.

There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures (a condition when an individual with a muscular dystrophy grows and the muscles don’t move with the bones and can easily be slowed down and/or make the individual’s body straighter by daily physical therapy), orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin, or mexiletine but no actual long term treatment has been found.

There are treatments that can help alleviate symptoms, such as muscle spasm, and enable people with MD to lead a good quality of life.Exercise and physiotherapy helps to keep the muscles in good condition.Physical aids, such as braces or wheelchairs, can help the individual to maintain mobility.Couples who know that MD runs in their family can opt for genetic counselling.It is possible to test embryos while still in the womb to see whether they have inherited the genes responsible.Doctors can also test an embryo conceived using IVF to check that it does not carry any faulty gene before it is put into the mother’s womb

Occupational therapy assists the individual with MD in engaging in his/her activities of daily living (self-feeding, self-care activities, etc) and leisure activities at the most independent level possible. This may be achieved with use of adapted equipment or the utilization of energy conservation techniques. Occupational therapy may also implement changes to a person’s environment, both at home or work, to increase the individual’s function and accessibility. Occupational therapists also address psychosocial changes and cognitive decline which may accompany MD as well as provide support and education about the disease to the family and individual.

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Prognosis:
The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.

Research Projects
A grid computing-based research project called “Help Cure Muscular Dystrophy” was launched on December 19, 2006 by Décrypthon. The Jain Foundation is involved in research into Miyoshi myopathy, a form of distal muscular dystrophy and LGMD2B, a limb-girdle muscular dystrophy.

Resources:
http://news.bbc.co.uk/2/hi/health/medical_notes/4250311.stm
http://en.wikipedia.org/wiki/Muscular_dystrophy
http://www.hnmrc.net/pd1989898396.html?categoryId=40

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Facial Expression

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Is your smile fake or genuine? Elena Conis unravels the myriad goings-on that bring about that enchanting facial expression .

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Mona Lisa’s smile is mysterious, the Cheshire Cat’s is devious, the Joker’s is mischievous and Buddha’s beatific.
Humans probably have been smiling for as long as they have been around. But despite the long history of smiles, scientists still haven’t figured out exactly how or why the brain tells the lips to curve, the nose to wrinkle, the eyes to twinkle and the cheeks to lift.

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Babies generally start smiling at about six to eight weeks. Throughout childhood, boys smile just about as much as girls. That changes soon after puberty. Grown women smile more than men, and they also smile wider. Smiling, studies suggest, makes people appear more attractive, kinder and, by some accounts,easier to remember.

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Smiles carry myriad meanings: joy, amusement, politeness, mockery, disdain, lechery and deceit, to name a few. But no matter the emotion, all smiles call on many muscles and nerves, starting with one called cranial nerve seven.

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Cranial nerve seven leaves the brain and heads for the face, and at the point where the jawbone meets the skull, it branches off. Some of its tributaries travel to the muscles of the forehead, some to the eyes, some to the nose and others to the cheeks, lips and chin. When cranial seven sends its message to the face, the face will smile.

All smiles share something else in common: an emotional foundation. But there’s subtlety here. Depending on what the emotion is, the brain sends different instructions to the face — such was the conclusion of a young, 19th century French doctor named Guillaume Duchenne.

In the 1840s, Duchenne went from hospital to hospital in Paris carrying a box-like contraption of his own making. Using the coil and electrodes in the box, he applied volts of electricity to the faces of his patients. As their faces contorted, he took notes, ultimately creating a map of the face muscles and nerves.

In the process, Duchenne noticed that the range of human facial expressions includes two kinds of smiles: one that stops at the lips, and one that extends across the face, to the eyes. A smile engaging the eyes, he concluded, was a genuine smile, one that is technically called a  Duchenne smile.

A century after Duchenne, scientists studying facial expressions began applying electrical currents directly to the brain. They found that stimulating certain areas could induce a smile, and that stronger stimulation could make a person laugh.

But not all scientists got the same results. In one experiment, researchers at the University of California, Los Angeles, were examining the brain of a 16-year-old to find where her chronic seizures were originating. When they electrically stimulated an area on the left side of the girl’s brain, she grinned. When they increased the current, her smile turned to genuine laughter.

In another case, this one in Switzerland, researchers were looking for the source of seizures in a 21-year-old man. Stimulating an area on the right side of his brain caused him to smile, and increasing the current made him laugh. Unlike the 16-year-old girl, he insisted that he felt no joy.

The precise brain regions involved in smiling are still debated, but evidence from patients with brain damage has made one thing clear: The areas involved in instigating a polite, or voluntary, smile (the kind exchanged with a bank teller, for example) are not the same ones involved in genuine smiling (such as the kind that emerges on seeing a loved one or hearing a funny joke).

Some stroke victims, for example, can’t force a smile on demand, but will grin easily when truly happy  is  an indication that the stroke destroyed part of the brain controlling voluntary smiles. But sometimes the converse occurs: A stroke destroys the brain region controlling involuntary movement. In this case, the victim is no longer able to smile or laugh out of joy but can still force the corners of his mouth up into a polite smile.

Researchers are now tapping into another of the smile’s mysteries: They have evidence that a smile that’s a prelude to laughter may actually help the body heal. Preliminary studies suggest that genuine laughter can jolt the immune system into gear.

Source:The Telegraph (Kolkata,India)

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