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The Unfolding Mystery of Scleroderma

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Scleroderma, an autoimmune disease, tends to afflict middle-age women and can affect many parts of the body, inside and out.


Lung disease, the biggest killer of scleroderma patients, is the main focus of research today..

Doctors have a growing arsenal of proven and potential treatments, some of which are risky and the subjects of current research, including stem cell transplants and powerful but toxic cancer drugs.

Like many autoimmune ailments, scleroderma remains a great unknown. Despite decades of research, the cause of this rare and complicated disease has yet to be discovered. But the good news is that doctors have a pretty clear understanding of how scleroderma progresses — a natural history, they call it — and are better than ever at extending and easing their patients’ lives.

“Lots of patients and lots of doctors used to consider it a ‘black box’ disease, a complete mystery, with little that could be done,” said Dr. Philip J. Clements of the University of California, Los Angeles, who is a scleroderma specialist. “Now there’s a body of evidence that tells us what to watch out for, and when.”

Experts now know, for example, that the gradual hardening of tissues and blood vessels that is a hallmark of scleroderma usually starts on the hands and face, with skin thickening, pitted scars and cool, pale fingertips among the earliest symptoms. Damage can then progress inward to internal organs, though the course varies widely from patient to patient. Of the 10,000 cases diagnosed among Americans each year, mainly women, a small subset will die quickly. But many others are able to manage their condition with a variety of treatments and have normal life expectancies.

Doctors also now know that if a patient’s internal organs are going to be affected as well as the skin, that is likely to happen in the first four or five years of the disease. So early diagnosis and close monitoring of the heart, lungs and kidneys are vitally important.

They have also learned that steroids, once viewed as a cure-all for immune disorders, can worsen the effects of scleroderma, especially in the kidneys, and should be used with caution.

“Learning which drugs to avoid was itself a big step,” said Dr. John Varga, the Gallagher Professor of Medicine at Northwestern University and chairman of the Medical Advisory Board for the Scleroderma Foundation, a nonprofit group that sponsors research and support for patients and families.

Kidney disease used to cause 90 percent of scleroderma-related deaths until the advent of a class of blood pressure drugs called angiotensin-converting enzyme, or ACE, inhibitors in the 1980s. ACE inhibitors prevent kidney damage by slowing down the chemicals that cause the muscles surrounding blood vessels to contract. Complications in the kidneys now account for only 14 percent of scleroderma deaths, Dr. Steen said.

The lungs are still a challenge. About 80 percent of scleroderma patients develop some form of lung problem — either pulmonary hypertension, due to hardening of the veins and arteries in the lung, or pulmonary fibrosis, in which the lung tissue becomes inflamed and then thickened with scarring. Some patients develop both. Either way, breathing becomes more difficult as the lungs become less pliable.

“If you die of a scleroderma-related problem, half of those deaths are from lung disease,” said Dr. Virginia Steen, a professor at Georgetown University and director of the Rheumatology Fellowship Program there. She wrote a seminal 2007 article that documented the shift from kidney disease to pulmonary disease as the biggest cause of death among scleroderma patients.

One successful remedy called Revatio, routinely prescribed since 2005, came from an unexpected source: Viagra. Repackaged from a little blue diamond to a round white tablet and renamed for marketing, dosage and insurance purposes, the drug works by relaxing the blood vessels and improving blood flow, whether for erectile or lung dysfunction.

“No one could understand why all these women were taking it four times a day,” said Frannie Waldron, chief executive of the Scleroderma Foundation.

Doctors also have a growing arsenal of experimental treatments and potential cures, some of which are risky.

Among them is cyclophosphamide, or Cytoxan, a powerful but highly toxic cancer drug that acts on the immune system. The drug decreases the inflammation that causes pulmonary fibrosis and has been used on scleroderma patients for the last 10 years.

But cytoxan has dangerous side effects, including an increased risk of bladder cancer, and usually is not given for more than a year. Moreover, the fibrosis seems to start again once drug treatments stop. Several studies involving the medication are under way, as well as efforts to find alternative treatments, many of them sponsored by drug companies.

Another big push involves stem cell transplant, an extremely risky process in which doctors try to reset the patient’s immune system and bypass the glitch that causes scleroderma. The procedure is the subject of a National Institutes of Health study called the SCOT trial, for Scleroderma: Cyclophosphamides or Transplantation?

Similar to a bone marrow transplant, doctors first draw the patient’s blood and extract the stem cells, the highly malleable building blocks that are thought to be free of the seeds of scleroderma. The patient is then subjected to high doses of radiation or chemotherapy with Cytoxan to kill the bone marrow. The last step is to reinfuse the stem cells, in the hopes that they replicate themselves in a healthy form free of disease.

The study will compare the benefits of the stem cell transplant with giving patients just monthly doses, but high ones, of Cytoxan. Preliminary results have been promising, several experts said.

“You’d think you’d have trouble recruiting for this,” said Dr. Arthur C. Theodore of Boston University, one of the investigators in the project. “But scleroderma patients are desperate.”

: The New York Times

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Ailmemts & Remedies

Muscular Dystrophy

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.

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.

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 .

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.

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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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.


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