(GIST OF SCIENCE REPORTER) SPINAL MUSCULAR ATROPHY


(GIST OF SCIENCE REPORTER) SPINAL MUSCULAR ATROPHY

(MARCH-2025)


SPINAL MUSCULAR ATROPHY

Health activists and patients with spinal muscular atrophy (SMA) have refuted the Central government’s affidavit in the Kerala High Court and demanded urgent action to reduce the cost of medicines required for SMA.

Key Details 

  • According to the activists and patients, the government’s latest affidavit in the SMA case before the Kerala High Court abdicates its Constitutional obligation to protect the right to life and health.

  • Cost: In the affidavit, the Central government acknowledges the staggering cost of SMA therapies — ranging from ₹50 lakh to ₹8 crore per patient annually, with gene therapies costing between ₹9 crore and ₹30 crore per patient. This results in an unbudgeted national expenditure of ₹6,400 crore to ₹34,000 crore each year.

About Spinal Muscular Atrophy

  • Spinal muscular atrophy (SMA) is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement. These cells are located in the spinal cord.

Signs and Symptoms

  • The symptoms of spinal muscle atrophy can range from moderate to incapacitating, but they all entail weakness in the muscles that govern movement.

  • Involuntary muscles, such as those in the heart, blood vessels and digestive tract, are not affected.

  • SMA weakens the muscles closest to the centre of the body, including the shoulders, hips, thighs and upper back.

  • The affected child may develop a curve in the spine (scoliosis) due to loss of size and strength of the back muscles.

  • As SMA worsens, breathing and eating may also become difficult, endangering the patient’s life.

SMA Causes and Risk Factors

  • Spinal muscle atrophy is a genetic disorder. 

  • Most forms of SMA are caused by mutations of the survival motor neuron 1 gene (SMN1) on the fifth chromosome, resulting in insufficient expression levels of the SMN protein.

  • SMN is essential to normal motor function because it enables muscles to receive signals from the nerves.

SMA Diagnosis

  • The symptoms of spinal muscle atrophy are similar to those of several other diseases affecting the muscles. 

  • To determine whether a patient’s muscle atrophy is due to SMA, the doctor may use the following tests:

  • Genetic testing: a blood test that enables technologists to look for mutations of SMN gene on the fifth chromosome.

  • Electromyography (EMG): a test that shows how muscles are receiving signals from the nerves.

  • Muscle biopsy: a small piece of muscle removed for examination under the microscope.

Treating and Managing SMA

  • SMA currently has no known cure. SMA patients can improve their quality of life by managing their symptoms and avoiding complications in collaboration with their healthcare providers.

  • Medication: There are no current medications for treatment of spinal muscular atrophy. Several medications to improve muscle and nerve function are currently in clinical trials.

  • Braces, support devices and wheelchairs: These can help patients maintain their independence as long as possible. 

  • Physical and occupational therapy and rehabilitation: In addition to therapy to keep joints flexible and to slow the progression of muscle wasting while improving flexibility and circulation,specific therapies for speech, chewing and swallowing may be appropriate. Proper feeding is essential to avoid aspiration (inhaling food or fluid into the lungs) and ensure good nutrition.

  • Ventilation assistance: Patients with breathing difficulties may require non-invasive ventilation to prevent apnea while sleeping, while others may need assisted ventilation during the daytime as well.

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Courtesy: Science Reporter