SMA type 3

SMA type 3 is listed as one of the rare diseases by the National Institute of Health. In the US, it affects about 200,000 people. Some people call it Kugelberg Welander Disease; others just call it SMA type 3. Well, these terms refer to one and the same thing – Spinal Muscular Atrophy type 3. This is basically a genetic condition that affects the nerves responsible for muscle movement, making the patient unable to walk properly or handle daily tasks. Here’s what you need to know about this condition.

What is SMA type 3?

Spinal Muscular Atrophy type 3 bears the name ‘spinal’ because most of the neurons affected are located right in the spinal cord. The name ‘muscular’ comes in because it affects the muscles that fail to receive signals from the neurons. The name ‘Atrophy’ on the other hand simply means wasting away, which is actually what happens to the muscles when they are not active. Got it? Well, let’s proceed to the manifestation.
SMA type 3 is usually diagnosed in kids from 18 months to their early teens. In most cases, the children are diagnosed before they reach 3 years. The patients learn to walk successfully, but tend to fall frequently. If your child has this problem, you will notice that they have difficulties walking down and up the stairs. Their balance could also be a problem, sometimes leading to regular falls.

What is muscle atrophy ?

What causes SMA type 3?

According to researches, this condition is purely a genetic disorder. It is caused by some changes that occur to a gene known as survival motor neuron 1. The parents of the child with SMA could carry a copy of this altered gene without showing any signs or symptoms. When they pass these genes to the unborn child, then chances are that the kid will be born with the disorder.
Some children tend to be affected by SMA type 3 than others. There’s a reason behind this. The severity of this condition may depend on the levels of proteins produced in the body, often called disease modifiers. Examples of proteins identified in recent studies include ZPR1 and plastin 3. Patients who produce more of these proteins naturally tend to experience less severe symptoms. However, research is underway to fully understand how this happens.

SMA Type 3 – Signs and symptoms

Just as mentioned above, SMA type 3 is diagnosed in patients between 18 months and early adolescence. Most of them can stand or walk comfortably, but the problem sets in when they have to walk for a long distance, go down and up the stairs or get up from a seat. Factors such as weight gain, illness or growth sprouts that occur in teenage years may lead to faster deterioration.
Here are some of the symptoms that you are likely to see in a patient with SMA type 3:
• Muscle weakness, with the legs appearing weaker compared to the arms
• Breathing, cough and swallowing problems especially at night
• Joint and muscle aching
• Tremors on the hands and fingers
• The spine appears to be curved (scoliosis). This occurs in about half of those diagnosed.
• susceptibility to RTI (respiratory tract infection) and complications

Find out  more about SMA here

Spinal muscular atrophy type 3 treatment

Is there a cure for SMA type 3? Sadly, there is no treatment at the moment. As of now, there isn’t a specific treatment, but research to find a cure is underway. However, this does not mean that the patient will continue suffering – you can effectively manage it to lessen the symptoms and maximize their quality of life.
Physiotherapy is one of them. A professional physiotherapist can prescribe a number of stretching exercises in order to help prevent contracture or shortening of muscles, which tends to limit the joint movement. The patient may also be asked to practice respiratory exercises as well as chest physiotherapy to reduce any chances of chest infections.
In a case where the child starts to use a wheel chair they can develop curvature of the spine. To avoid this, the physiotherapist will advice correct bracing and posture. In some cases, surgery may be required to correct it.
Generally, it is recommended that patients with SMA type 3 engage in a lot of physical activities, without overdoing it. This helps maintain their general well-being and physiological health. There should also be routine assessment by qualified health personnel so that any arising problem can be picked up early enough. A dietician or nutritionist can also advise on the best diet to improve their quality of life. If the patients adds weight and extra load is placed on the muscles, this can make the condition worse. For their well-being, the patient needs to feed on a balanced diet, according to the nutritionist’s guidelines.

SMA type 3 Prognosis and Life Expectancy

The prognosis of SMA type 3 varies from one patient to another. However, the course is slowly progressive. According to the National Institute of Neurological Disorders and Stroke, patients tend to be ambulatory for some time until late in life. The life expectancy is usually normal. Although the condition may appear to be stable over long periods, studies show that improvements are not guaranteed and not be expected.

Posted in Spinal Muscular atrophy.

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