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Spinal Muscular Atrophy: Causes, Symptoms And Treatment

The Kashmir Monitor

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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

Balanced protein intake better for health

The Kashmir Monitor

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Researchers suggest that excessive consumption of protein for building muscle mass could have a negative impact on the body. However, wide-range of protein is best to maintain balance. Amino acids have long been touted by the fitness and bodybuilding communities for their muscle building benefits. From ultra-bulk protein powders to lean mass-promoting snack bars, there’s no shortage of products available for those seeking a muscle boost.

However, protein’s popularity has also meant that less attention has been paid to researching its potentially negative side-effects.

According to the study published in the Journal of Nature Metabolism, excessive consumption of branched-chain amino acids (BCAAs) may reduce lifespan, negatively impact mood and lead to weight gain.

 

BCAAs stands for branched-chain amino acids. It’s a group of three essential amino acids: leucine, isoleucine and valine, and are most commonly found in red meat and dairy.

BCAAs great for adding muscle mass, but science says you could pay for it later.

Researchers have investigated the complex role nutrition plays in mediating various aspects of metabolic health, reproduction, appetite and ageing.

“While diets high in protein and low in carbohydrates were shown to be beneficial for reproductive function, they had detrimental effects for health in mid-late life, and also led to a shortened lifespan,” one of the researchers, Dr Samantha Solon explained.

“What this new research has shown is that amino acid balance is important. It’s best to vary sources of protein to ensure you’re getting the best amino acid balance.”

The current research examined the impacts that dietary BCAAs and other essential amino acids such as tryptophan had on the health and body composition of mice.

“Supplementation of BCAAs resulted in high levels of BCAAs in the blood which competed with tryptophan for transport into the brain,” explained one of the researchers, Professor Stephen Simpson.

“Tryptophan is the sole precursor for the hormone serotonin, which is often called the ‘happiness chemical’ for its mood-enhancing effects and its role in promoting sleep. But serotonin does more than this, and therein lay the problem,” he added.

Dietitian and public health nutritionist Dr Rosilene Ribeiro recommend eating a wide range of proteins.

It’s important to vary protein sources in order to get a variety of essential amino acids, through a healthy and balanced diet rich in fibre, vitamins and minerals.

BCAAs are essential amino acids present in protein-containing foods, with red meat and dairy being the richest sources. Chicken, fish and eggs are also nutritious sources of BCAAs.

Vegetarians can find BCAAs in beans, lentils, nuts and soy proteins.

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Health

Know the severity of falling sick in the morning

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While sickness comes irrespective of the time, the severity of afflictions ranging from allergies to heart attacks differs in the morning from that in the night highlighted a new study. The study was published in the Journal Trends in Immunology which compiled studies, predominantly in mice, that looked at the connection between circadian rhythms and immune responses.

The body reacts to cues such as light and hormones to anticipate recurring rhythms of sleep, metabolism, and other physiological processes. The numbers of white blood cells, in both humans and mice also oscillate in a circadian manner.

Taking into account the above-mentioned facts, researchers in the study found that:

 

Heart attacks in humans are known to strike most commonly in the morning, and research suggests that morning heart attacks tend to be more severe than at night.

In mice, the numbers of monocytes, a type of white blood cell that fights off bacteria, viruses, and fungi –are elevated in the blood during the day. At night, monocytes are elevated in infarcted heart tissue, resulting in decreased cardiac protection at that time of day relative to morning.

Parasite infections are time-of-day dependent. Mice infected with the gastrointestinal parasite Trichuris muris in the morning have been able to kill worms significantly faster than those infected in the evening.

Allergic symptoms follow a time-of-day dependent rhythmicity, generally worse between midnight and early morning. Hence, the molecular clock can physiologically drive innate immune cell recruitment and the outcomes of asthma in humans, or airway inflammation in mice, the review notes.

“Investigating circadian rhythms in innate and adaptive immunity is a great tool to generally understand the physiological interplay and time-dependent succession of events in generating immune responses,” said senior author Christoph Scheiermann, University of Geneva.

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Health

ICMR develops affordable quick test kits for diagnosing genetic bleeding disorders

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The Indian Council of Medical Research (ICMR) has developed a cost-effective and rapid point-of-care test kit for diagnosing genetic bleeding disorders such as haemophilia A and Von Willebrand disease (VWD).

Diagnostics which are currently available require special equipment and are expensive.

“Both Haemophilia A and VWD are under diagnosed disorders in our country. There are only handful of comprehensive diagnostic centres for bleeding disorders,” an official at ICMR said.

 

“Lack of awareness and diagnostic facilities, high cost of tests are some of the factors for under-diagnosis of bleeding disorders in our country,” he said.

According to the ICMR, the kit is the world’s first point-of-care test for specific diagnosis of any common bleeding disorder and costs less than Rs 50 in comparison to existing conventional test that cost around Rs 4,000 to Rs 10,000.

The newly developed kit would help in diagnosis within 30 minutes of blood sample collection. Also, this will be available at any level of health care system including primary health care centres (PHCs) since it does not require any special expertise or infrastructure.

Worldwide, incidence of Haemophilia A is 1 per 10,000 male births and that of VWD is around 1 per cent of the general population.

“In India, there is no epidemiological data. We may have roughly 80,000-1,00,000 severe Haemophilia cases in our country, but the total number registered with Haemophilia Federation India (HFI) is only around 19,000,” the official said.

Patients with severe Haemophilia A or VWD can have life threatening spontaneous or post-traumatic bleeding like brain haemorrhage and gastrointestinal bleeding. In emergency medical setting, it is important to have a quick diagnosis of bleeding disorders for treatment.

This rapid test kit can be used for the diagnosis of menorrhagia cases/ post-partum haemorrhage (PPH), gynecological complications among others.

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