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Spinal Muscular Atrophy: Causes, Symptoms And Treatment

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Spinal muscular atrophy is referred to a genetic disorder in which a person is unable to control movement of muscles because of loss nerve cells in spinal cord and brainstem. The condition causes muscle wasting and weakness, which might even make it difficult for one to stand, control head movements, walk and in breathe and swallow in some cases. Spinal muscular atrophy is not just one single health condition. It is characterized by a range of diseases – which when grouped together – are known to be the second leading cause of neuromuscular disease. Spinal muscular atrophy can be fatal if it strikes individuals under the age of 3. In December 2016, the first drug – Spinraza – to treat spinal muscular atrophy was approved. Besides this, there is no cure for the condition. People suffering from the condition are treated with the help of assistive devices which help them function in their day-to-day life.
Causes of spinal muscular atrophy
Spinal muscular atrophy occurs when motor neurons in spinal cord and brainstem either stop working because of genetic changes. Motor neurons are referred to the nerve cells which control movement.
The condition is genetic. For a child to have spinal muscular atrophy, both parents are likely to have faulty genes. However, one in 40 adults is carrier of the gene that causes spinal muscular atrophy.
Symptoms of spinal muscular atrophy
Spinal muscular atrophy symptoms are dependent on severity of the condition and the person’s age when it starts. Infants with SMA type I are said to have a weak muscle tone along with facing feeding and breathing problems. In SMA type III, symptoms do not appear until second year of life.
Most symptoms of spinal muscular atrophy are similar to secondary complications of muscle weakness, which can often relived partly by therapy.
Types of spinal muscular atrophy (SMA)
SMA type 1
This is a serious condition. Children affected with SMA type 1 are unable to sit or stand. The condition is said to be fatal before 2 years of age. It can be detected during birth as there may be reduced fetal movement during the final months of pregnancy. At times, the same is visible within the first few months of pregnancy as well.
SMA type II
This condition appears between ages 3 and 15. The infant maybe able to sit, but may never be able to stand or walk. Life expectancy of people suffering from SMA type II is dependent on whether or not the patient experiences bathing problems or not. Most people with SMA type II survive into adulthood.
SMA type III
This kind of SMA appears between the ages 2 to 17. Under this condition, a person has an unusual gait and experiences difficult in running, rising from a chair or climbing steps. There may be a slight tremor of the fingers. Some people with SMA type III also lose the ability to walk and may develop scoliosis. Other complications include osteoporosis and obesity.
Kennedy syndrome
This is a slow progressing inherited condition which appears between 20 to 40 years of age or later. The gene is carried by women and only a son inherits this disorder.
Congenital SMA with arthrogryposis
People with this condition experience persistent contracture of joints. This condition is evident at birth and includes symptoms like curvature of spine, chest deformity, small jaw, respiratory problems and drooping upper eye lids.
Adult SMA or SMA IV
This condition appears after the age of 18. People suffering from SMA IV are able to walk and do not experience any problem with breathing or eating.


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Health

These Nutritious Breakfasts Can Give A Kick Start To Your Day: Do Try Them!

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Breakfast is undoubtedly the most important meal of the day. It is the meal which kick-starts your metabolism and helps you burn calories throughout the day. Not only is it important for people who are trying to lose weight, it is simply important for a person to stay fit and healthy. Breakfast is the one meal which can give you the energy to do things and focus at your work and school. WebMD says that including breakfast in your diet can have positive effects on your memory and concentration.

Following are some breakfast options suggested by Delhi-based nutritionist Pooja Malhotra, which can give a boost your energy and also keep you warm during the chilly winter months.

Try these healthy breakfast options right now!

 

1. Stuffed rotis

Winter is the time when a variety of vegetables are in season. Stuffed rotis or paranthas made from methi (fenugreek), mooli (radish), gobi (cauliflower), matar (peas) or gajar (carrots) can all make for a delicious and wholesome winter breakfast. You can cook them with ghee (make sure you use it in the right quantity) and eat them with pickle and curd. Stuffed rotis are essentially the traditional Indian breakfast which people have been having for years. Prepare them as your grandmother used to prepare and enjoy them throughout winter.

2. Palak or beetroot roti with mint raita

Palak or spinach is a leafy geen veggie with more health benefits than you can count in your fingers. Similar is the case with beetroot, which is a root vegetable which is incredibly low in calories and is a great source of essential nutrients like fibre, folate and Vitamin C. Beetroot also contains nitrates and pigments which can help in controlling your blood pressure and may improve your overall athletic performance.

3. Egg parantha or scrambled eggs with chapati

Now that is a protein-rich breakfast which can help you keep full for longer. Prepare egg paranthas or eat scrambled eggs with roti for the perfect blend of protein, fat and carbs in your breakfast. Also, do not separate the yolk from egg white. A whole egg will provide you with all essential nutrients.

4. Bajra roti with beetroot raita/bajra khichdi

Bajra is a healthy grain which can be included a weight loss diet as well. You can either make a dough of bajra flour or prepare bajra khichdi as a healthy breakfast option. Bajra or millets has properties that can help in stabilising cholesterol levels in the body. Being rich in fibre, the grain is great for digestion and makes for a healthy breakfast option during winter.

(Pooja Malhotra is a nutritionist based in Delhi)

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Health

5 Super Healthy And Warm Drinks To Keep You Hydrated During Winter

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Are the teas and coffees failing to keep you warm during the chilly winter? Then need not worry as we are right here with multiple options for warm and comforting drinks during winter. Warm drinking options are important to keep you hydrated during winter. Staying hydrated during summer seems to be way easier as cold and healthy drinks are aplenty. The easiest way to stay hydrated during summer is to simply gulp down a bottle of water. But in winter, the body is usually in need of something which keeps us warm and on-the-go. Keep reading if you want some alternative warm drinks instead of sipping on a third our fourth cup of coffee.

Drinks to keep you warm and hydrated during winter

Turmeric latte:

 

Well, this is nothing but our very own haldi doodh. It is the traditional drink which is taken when a person is suffering from cold or fever. It is a healing drink which can naturally detox your body and even strengthen your bones.

Ginger, honey, lemon tea:

Yes, this is another traditional drink which can be taken in warm form as well. You can create a tea concoction by adding ginger, honey and lemon to water and bring to a boil. It can make for a refreshing and warming drink during the chilly winter months.

Hot mulled cider:

All you need to do is add cardamom, peppercorns, star anise, ginger, lemon and cloves to apple cider vinegar. Add a tinge of all these ingredients in a cup of ACV and heat it in low flame. The drink is going to make for a flavourful companion to you and your favourite book by the fireplace.

Vegetable/chicken/bone broth or soup:

Soups or broths are filling and extremely warming during the cold winter months. You can either prepare steaming hot vegetable soup or broth or chicken soup or bone breath. Broths and soups are fluids which can help you hydrated during winter while also boosting your immunity and protecting your from catching a cold or infection. Just make sure that their preparation is light and healthy.

Vanilla-almond steamer:

Now this is a toasty treat you all have been craving! All you need is some warm milk, cinnamon, vanilla and some almonds. This velvety winter drink is going to be your all time favourite! What’s more is that you can prepare it beforehand and have it when you’re ready for a warm treat for yourself.

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Fasting can improve overall health, study suggests

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Fasting influences the circadian clock and fasting-driven cellular responses, which together work to achieve fasting-specific temporal gene regulation.

Fasting can lead to improved health and provide protection against ageing-associated diseases, a recent study suggests.

According to the research, fasting affects circadian clocks in the liver and skeletal muscle, causing them to rewire their metabolism, which can ultimately lead to improved health and protection against ageing-associated diseases. The study was published recently in Cell Reports.

 

The circadian clock operates within the body and its organs as intrinsic time-keeping machinery to preserve homeostasis in response to the changing environment. And, while food is known to influence clocks in peripheral tissues, it was unclear, until now, how the lack of food influences clock function and ultimately affects the body.

“We discovered fasting influences the circadian clock and fasting-driven cellular responses, which together work to achieve fasting-specific temporal gene regulation,” said lead author Paolo Sassone-Corsi.

“Skeletal muscle, for example, appears to be twice as responsive to fasting as the liver,” Paolo asserted.

According to the researchers, fasting is able to essentially reprogram a variety of cellular responses. Therefore, optimal fasting in a timed manner would be strategic to positively affect cellular functions and ultimately benefiting health and protecting against ageing-associated diseases.

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