Spinal Muscular Atrophy (SMA) Symptoms, Signs, Types, And Treatments

2. Decreased Or Absence Of Deep Tendon Reflexes

Symptoms of spinal muscular atrophy also include deep tendon reflexes brought about by lower motor neuron degeneration.

The degeneration or loss of lower motor neurons results in gradual muscular weakening and diminished or nonexistent reflexes, also known as hyporeflexia.

Hyporeflexia is an indication of peripheral nervous system dysfunction. This makes the muscles respond less to stimuli.

1. Respiratory Problems

The inability to breathe normally is the most significant risk associated with spinal muscular atrophy, as this condition causes the muscles responsible for breathing to become weak.

Immediate and careful attention to respiratory function is required, along with timely medical intervention for infections.

A primary care physician can help guide the patient through the specifics of maintaining healthy respiratory health.

These are the common spinal muscular atrophy symptoms worth knowing about.

Treatments And Care

Increasing the amount of survival motor neuron protein is one method of treating SMA. This method is often referred to as “SMN-based” or “SMN-enhancing” approach.

All SMA patients have at least one and frequently multiple copies of a second gene called survival motor neuron gene 2 (SMN2), or the “SMA backup gene.” SMN2 also generates SMN protein, but only a small portion of this protein can be utilized by the body.

Numerous SMN-enhancers target this SMN2 gene, causing it to produce more functional SMN protein. Other SMN enhancement methods directly replace or repair the mutated SMN1 gene.

There are various types of spinal muscular atrophy each of which, if left untreated, can be fatal.

Immediate reliefs and treatments are available for patients with SMA.

Here are the various SMA treatments and reliefs that you should know about.

16. Osteopathy

Osteopathy is a natural treatment for SMA. It involves manipulating and massaging the muscles, joints, and bones to relax tight muscles and improve circulation. It also increases the mobility of joints and relieves muscle tension. This particular type of treatment can also help reduce pain.

Osteopathy can help the patient function independently or with minimal supervision. This particular treatment is supported by regular exercise and good nutrition.

15. Evrysdi (Risdiplam)

Evrysdi, also known as risdiplam, is a prescription medicine. It is also an SMN-enhancing that targets the SMN2 gene to produce and maintain more of the missing protein.

This is an oral drug that is taken once a day, after a meal. It should be taken at the same time every day. This is a more affordable and convenient treatment as compared to Zolgensma.

14. Cough-Assisting Machine

A cough assisting machine plays an important role in the respiratory care of patients with SMA.it helps expel mucus, creating a stronger cough. A good example of this particular type of machine is an insufflator-exsufflator machine.

This is a non-invasive machine and it treats the condition by simulating a strong cough to expel mucus.

13. Manual Cough Assistance

Cough can also be assisted manually to mobilize mucus and loosen up phlegm. This is a hands-on approach that requires the patient to gently apply pressure on the diaphragm and abdomen while coughing.

The diaphragm is stimulated to move upward, creating more forceful coughing and exhalation. This particular type of treatment helps to release mucus.

12. Chest Physiotherapy

Chest Physiotherapy involves a particular type of technique to expel mucus. It requires the patient to gently clap on the chest wall or use a vibrating machine to mobilize mucus. This particular treatment eliminates secretion and makes breathing a lot easier for the patient. It helps expands the lungs, preventing them from collapsing.

In some cases, patients might need to do this particular type of technique every day. Other patients may only need it when they are sick.

11. Nutrition

People living with SMA might have a hard time swallowing. This is a condition known as dysphagia. It is brought about by the neuromuscular dysfunction that is weakening the muscles. It not only affects swallowing but chewing and breathing as well.

Given this condition, people with SMA may end up malnourished. Since they cannot chew food, they can miss out on proper nutrition. Getting proper nutrition through soft low-fat foods can help them stay healthy.

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