August is Spinal Muscular Atrophy (SMA) Awareness Month!

In August, we recognize Spinal Muscular Atrophy (SMA) Awareness Month, with the following goals:

1. Education: Inform the public about SMA, its symptoms, diagnosis, and treatment options.

2. Support: Provide resources and support to individuals and families affected by SMA.

3. Research: Promote research and development of new treatments and therapies to improve the lives of those living with SMA.

What is Spinal Muscular Atrophy (SMA)? 

Spinal muscular atrophy (S.M.A.) is a rare neuromuscular condition that causes motor neuron loss and gradual muscle wastage. It is typically identified in infancy or early childhood, and if ignored, it is the leading hereditary cause of infant death. It may sometimes occur later in life, resulting in a milder version of the condition.

Spinal muscular atrophy is a motor nerve disease characterised by the wasting away of nerve cells in the spinal cord known as motor neurons. The main genetic cause of death in babies under the age of two is spinal muscular atrophy, with its most prevalent feature being gradual paralysis of voluntary muscles, and the arm, leg, and especially respiratory muscles being the first to be affected. Poor head control, swallowing difficulties, scoliosis, and joint contractures are all possible complications.

All levels of S.M.A. necessitate varying degrees of treatment, which usually entails a combination of prescription, technology, and psychotherapy. The good news is that with proper treatment and physical therapy, many children and adults with S.M.A. can live full, productive lives.

The purpose of Spinal Muscular Atrophy Awareness Month is to demonstrate our support through local and national activities, promote awareness, educate people, raise funds for additional research, and aid in the hunt for a cure. It’s intended that this month-long awareness campaign, and others like it in the future, would recognise every one of those whose lives are affected by S.M.A. and bring about future change.

Some facts about Spinal Muscular Atrophy:

1. Spinal muscular atrophy (SMA) is a progressive, rare, genetic, neuromuscular condition that affects the motor nerve cells in the spinal cord.

2. It impacts a person’s physical strength and can affect the ability to crawl, walk, move your limbs, breath, and swallow.

3. There are different forms of SMA, which vary in severity and impact they have on a person’s function.

4. The main forms of, ‘5q SMA’ includes SMA Types 0, 1, 2, 3 and 4. 

5. People who have ‘5q SMA’ have two faulty copies of the SMN1 gene. This means they are unable to produce enough SMN protein to have healthy lower motor neurons, which is essential for activating muscles used for movement.

6. SMA does not affect a person’s ability to think, learn, and build relationships with others.

7. There is no cure for any form of SMA, but since 2016 drug treatments for 5q SMA have gradually been introduced worldwide.

8. Early treatment of SMA leads to better outcomes.

9. Multidisciplinary approach in combination with disease modifying therapies lead to better response.

10. Untreated SMA is the leading genetic cause of infantile death.

SMA – Some Rare Types

As part of SMA Awareness Month, we want to raise awareness of a few rarer forms of SMA.  These are caused by mutations in genes other than the SMN1 gene.

SMA with Respiratory Distress (SMARD)

SMARD is a very rare form of SMA that affects the upper spinal cord more than the lower spinal cord. Babies with SMARD often experience severe respiratory distress due to diaphragm paralysis. They often have weakness in the hands, feet, and more distal muscles. SMARD is autosomal recessive and caused by specific mutations in the IGHMBP2 gene.

Distal SMA

Distal SMA is another rare form of SMA and affects the motor neurons of the hands and feet. Symptoms usually begin with muscle cramping followed by weakness and muscle wasting. Distal SMA is associated with multiple gene mutations on different chromosomes. Distal SMA is inherited in an autosomal dominant pattern, which means that only faulty genes passed on from a parent with Distal SMA will cause the condition.

Spinal muscular atrophy with lower extremity predominant and dominant inheritance (SMA-LED)

SMA-LED is a rarer form of SMA that begins in infancy or early childhood. SMA-LED affects the motor neurons of the lower extremities causing muscle weakness and wasting in the lower limbs. It most severely affects the thigh muscles, resulting in unsteady walking, difficulty climbing stairs, and getting up from sitting. The inheritance is autosomal dominant, which means that only one faulty gene copy is needed from an affected parent to cause the condition.

Spinal and Bulbar Muscular Atrophy (SBMA) or Kennedy’s Disease

This is an X-linked genetic disease, meaning it only affects males. It usually appears between the ages of 30 and 50. It causes muscle weakness and atrophy throughout the body, which is most noticeable in the legs and arms. It is also especially noticeable in the face and throat and causes speech and swallowing difficulties and muscle cramps.

X-Linked SMA

X-Linked SMA is a very rare form of SMA that appears in infancy. This form causes severe muscle weakness and difficulty breathing, and infants may be born with broken bones. Inheritance is X-linked and affects predominantly males.

SMA with Progressive Myoclonic Epilepsy (SMA-PME)

SMA-PME develops in childhood and causes weakness and wasting of muscles and a combination of seizures and uncontrollable muscle jerks. This is caused by a loss of the nerve cells known as motor neurons, which are located in both the spinal cord and brain stem. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and an increased risk of pneumonia.

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Click here to check out past posts from MDI about SMA