Juvenile Batten Disease

Batten disease is a fatal, inherited disorder of the nervous system that typically begins in childhood. Both parents have to have the recessive gene for the disease to manifest. If just one parent has it, then the child could be a carrier.

Early symptoms of this disorder usually appear between the ages of 5 and 10. What Parents or physicianstend to notice is a previously normal child who now begins to develop vision problems or seizures.

Early signs are subtle, taking the form of personality and behaviour changes, slow learning, clumsiness, or stumbling. Over time, children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, Batten disease sufferers become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.

Batten disease is named after the British paediatrician who first described it in 1903. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses, or NCLs. Although Batten disease originally referred specifically to the juvenile form of NCL (JNCL), the term Batten disease is increasingly used by pediatricians to describe all forms of NCL.

So what is an NCL? Lipofuschin is a natural pigment made in the nerves of the body. In NCLs the pigment doesn’t get removed from the tissue when it should and builds up, damaging the nervous system.  These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.

Batten disease and other forms of NCL are relatively rare, occurring in an estimated 2 to 4 of every 100,000 live births in the United States. These disorders appear to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada. Although NCLs are classified as rarediseases, they often strike more than one person in families that carry the defective genes.

No specific treatment is known that can halt or reverse the symptoms of Batten disease. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy may help patients retain function as long as possible.

Some reports have described a slowing of the disease in children with Batten disease who were treated with vitamins C and E and with diets low in vitamin A. However, these treatments did not prevent the fatal outcome of the disease.

Support and encouragement can help patients and families cope with the profound disability anddementia caused by NCLs. Often, support groups enable affected children, adults, and families to share common concerns and experiences.

Meanwhile, scientists pursue medical research that could someday yield an effective treatment.

Article is related to

Diseases and Conditions

Impaired sensation,   Genetic deformity,   Seizure,   Congenital disorders

Treatment/Therapy

Behavioral counseling,   Behavioral therapy

Sleep Paralysis

You wake up.. your eyes adjust slowly… a shadow moves across the foot of your bed, the corner of your eye is all you can see it with. You try to adjust yourself for a better looks.. but.. you can’t… move… not a hair.. not a muscle. It's dark, but you're sure you feel that presence in the room, closer to you now.. at your sides… no.. on your chest… perhaps sitting on your chest… crushing the breath out of you.

Not a badly written horror movie.. but the script for something much more common. A mundane sleep disorder that people have called “Night terrors”, “Witch Hag Syndrome” and now is commonly called"Sleep Paralysis".

Understanding this problem has led to better management and less terror at night for millions upon millions of sufferers worldwide.

Researchers James Cheyne and Gordon Pennycook of the University of Waterloo in Canada surveyed 293 people, mostly women, on their experiences with sleep paralysis. They found that people were mostdistressed after an episode when hallucinations felt threatening and when they held supernatural beliefs regarding the cause of the paralysis.

Estimates of how many people experience sleep paralysis vary from 5 percent to 60 percent, likely because of differences in survey methods. Some people find themselves experiencing sleep paralysis frequently, while others wake up paralyzed only once or twice in their lifetimes. The good news is that sleep paralysis is ultimately considered harmless.

Sleep paralysis occurs when the brain and body out of sync. During the REM (Rapid Eye Movement) phase of sleep… dreaming is supposed to be frequent and lively… but you have a failsafe built in so that your don’t act out your dreams by accident… during REM.. your skeletal muscles will be weakened to the point of paralysis. Researchers have found that two brain chemicals, glycine and GABA, are responsible for this muscle paralysis. In sleep paralysis… you still haven’t started REM sleep.. but the Glycine and the GABA cause the paralysis prematurely.

Sleep paralysis can sometimes be a symptom of narcolepsy. This is a relatively rare sleep disorder that causes a person to fall asleep suddenly and unexpectedly, disrupting their normal sleep pattern.

Other things that increase your risk of sleep paralysis include:

• Sleep deprivation 
• Irregular sleeping patterns
• Age –it is more common in teenagers and young adults

The symptoms of sleep paralysis can often be improved by altering your sleep habits and sleepingenvironment. Sleep paralysis often affects people who are sleep deprived, so ensuring you get enough sleep may reduce the number of episodes you have. Most adults need 6-8 hours of sleep each night. Going to bed at roughly the same time each night and getting up at the same time each morning may also help.

If your sleep paralysis is particularly severe, see your GP. They may refer you to a specialist, such as a neurologist. A short course of antidepressant medication, such as clomipramine, may be prescribed to treat severe sleep paralysis.

Tips for improving your sleeping habits include:

1. Creating a restful sleeping environment that is quiet, dark and not too hot or cold.
2. Ensuring your bed is comfortable.
3. Exercising regularly (but not too close to bedtime).
4. Cutting down on caffeine.
5. Not eating or drinking alcohol before bedtime.
6. Giving up smoking (if you smoke) because nicotine is a stimulant.

Article is related to

Diseases and Conditions

Sleep deprivation,   Sleep paralysis,   Sleep cycle disorder

Medical Topics

Sleep cycle,   Sleep inertia

Why do so many Weight loss Diets now push Exercise?

Many people believe that diet alone is sufficient to lose weight, and exercises are not necessarily important. But the truth is different; losing weight is not enough, what one really needs to drop, is the fat mass. When we eat less, we obviously take lesser calories and so would weigh lesser on the weighing scale. But eating less is mostly associated with a reduced intake of many vital nutrients, resulting in frailty and altered metabolism.

To overcome this situation, the healthy weight loss diets stress on regular exercises. Exercising crafts a Negative Energy Balance, in which a person burns more calories than they consume. It also helps in building the lean body mass, which causes more calories to burn, all through the day, even when one is at rest. Exercises, therefore becomes more significant when it comes to long term weight loss.

Diet, along with regular exercises enables one to be in control and make healthier choices. While it allows us to be slightly indulgent, it also affects our body in many other ways, some of which are -

1. It Improves metabolism
2. Relates one to the body
3. Makes one more aware and sensitive of the physical needs
4. Elevates mood
5. Reduces stress
6. Gives a whole new perception to self-esteem and boosts confidence.

The success of any weight loss diet depends upon “inch loss” rather than the “weight loss”. Regular exercises encourages inch lose, by toning muscles and burning the accumulated fat and extra calories. It is therefore expected that a thoughtful diet plan would always push you towards regular exercises for sustained results.

Article is related to

Diseases and Conditions

Weight loss

Treatment/Therapy

Weight management,   Exercise therapy

Medical Topics

Calorie restriction,   Diet food,   Weight training