Skip to main content

Spinal muscular atrophy

Image
By

 Spinal muscular atrophy

SMA


Two-Month-Old Baby Battling Rare Disease To Receive World’s Most Expensive Injection

Suffering from genetic spinal muscular atrophy, the baby is undergoing gene theray and will require an injection that costs Rs 16 Crores

An eight-week-old baby in Britain will receive an injection that costs about Rs. 16 Crores, reports claimed.

Suffering from genetic spinal muscular atrophy, Edward will have to be administered one type of gene therapy—Zolgensma to fight the rare disease.

Since Britain imports the doses from the US and Europe, the injection costs a whooping a 1.7 million pounds.

A disease unique to children, genetic spinal muscular atrophy (SMA), occurs due to lack of the SMN-1 gene. Symptoms of the disease include weakening of chest muscles which eventually leads to a difficulty in breathing.


Interestingly, until 2017 there was no cure for the disease.

Spinal Muscular Atrophy

Download our Spinal Muscular Atrophy Fact Sheet

Learn about MDA’s COVID-19 response

What is spinal muscular atrophy?

Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle).

Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which don’t receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they’re not stimulated by nerve cells.

SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.

In the most common form of SMA (chromosome 5 SMA, or SMN-related SMA), there is wide variability in age of onset, symptoms, and rate of progression. In order to account for these differences, chromosome 5-related SMA, which often is autosomal recessive, is classified into types 1 through 4.

The age at which SMA symptoms begin roughly correlates with the degree to which motor function is affected: The earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1). Later-onset SMA with a less severe course (types 2 and 3, and in teens or adults, type 4) generally correlates with increasingly higher levels of motor function.


What causes SMA?

Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for “survival of motor neuron.” This protein, as its name implies, seems to be necessary for normal motor neuron function. SMN plays a pivotal role in gene expression in motor neurons. Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1. The most common mutation in the SMN1 gene within patients diagnosed with SMA is a deletion of a whole segment, called exon 7.1 Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes as there is 99% identity between these two genes.2

Other rare forms of SMA (non-chromosome 5) are caused by mutations in genes other than SMN1.3  


Labels:

Popular posts from this blog

Homeopathy and Cancer Treatment: A Complementary Approach

By
Hello, I'm Vishnu, a passionate homeopathy practitioner dedicated to exploring the full potential of holistic health. As the field of complementary and alternative medicine continues to evolve, homeopathy has gained attention for its gentle and individualized approach to healing. Today, I want to shed light on how homeopathy can serve as a supportive option for individuals facing cancer, while also emphasizing the importance of informed decision-making. Homeopathy, based on the principle of "like cures like," involves using highly diluted substances to stimulate the body’s natural healing response. For many, this gentle method offers a sense of empowerment and comfort, particularly in challenging health situations such as cancer. Though homeopathy is not promoted as a stand-alone cancer treatment, it can play a valuable role in supporting patients alongside conventional therapies. Individuals undergoing conventional cancer treatments like chemotherapy and radiation often ...
Read more

Homeopathy & Smoking: A Natural Way to Beat the Cravings

By
|  Why is Smoking So Hard to Quit?   Hey there! I’m Vishnu, a  homeopathy practioner and researcher, always curious about how natural healing can make a difference. Smoking is one of the toughest habits to quit A transient surge of endorphins in the reward circuits of the brain causes a slight, brief euphoria when nicotine is administered. This surge is much briefer than the "high" associated with other drugs. However, like other drugs of abuse, nicotine increases levels of the neurotransmitter dopamine in these reward circuits , which reinforces the behavior of taking the drug. Repeated exposure alters these circuits' sensitivity to dopamine and leads to changes in other brain circuits involved in learning, stress, and self-control. For many tobacco users, the long-term brain changes induced by continued nicotine exposure result in addiction, which involves withdrawal symptoms when not smoking, and difficulty adhering to the resolution to quit. We all know smoking is har...
Read more

Homeopathy vs. Conventional Medicine: Can They Work Together?

By
  Hello everyone, I’m  Vishnu , a homeopathic medical student passionate about exploring how different healing approaches can work together. Today, let’s talk about a topic that often sparks debate: Homeopathy and Conventional Medicine   – Are they rivals, or can they complement each other?   Understanding the Two Systems   Before we jump to conclusions, let’s get the basics right.   - Conventional Medicine (Allopathy) is what most people are familiar with—fast-acting drugs, surgeries, and treatments backed by extensive clinical trials. It focuses on symptom suppression and is highly effective in emergencies, infections, and life-threatening conditions.   - Homeopathy, on the other hand, follows the principle of "like cures like" and individualized treatment. It aims to stimulate the body's natural healing response using highly diluted substances. Homeopathy is widely used for chronic diseases, allergies, autoimmune disorders, and even mental hea...
Read more