Stem Cell Treatment of Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a rare inherited genetic condition that affects approximately 1 in every 7,000 babies born worldwide. It is autosomal recessive, which means both parents must each have a defective gene for the child to have the disease. Approximately 1 in 50 people are genetic carriers, and if both parents are carriers, there is a 25% chance the child will be born with SMA. Genetic testing is offered in many countries to help assess whether you are a carrier, before you give birth, it includes pre-implantation genetic diagnosis (PGD).

There are four types of SMA, which are categorized by severity. Type I, most commonly known as Werdnig-Hoffman disease, is the most severe type and muscle weakness appears during infancy. Type II, which is less severe than type I, is characterized by progressive muscle weakens which develops later in childhood. Type III is typically diagnosed in early adulthood and worsens with age. Type IV is also mildest and muscle wasting typically appears in adulthood.

SMA is a type of a motor neuron disease characterized by the loss of nerve cells in the spinal cord and brain stem that lead to muscle weakness, difficulty walking, breathing, or swallowing. There is no permanent cure for SMA however there are treatments like neural stem cell transplants, gene therapy, the medication Spinraza, and medication Zolgensma, that aim to slow disease-containing the disease and improve patient quality of life.

Causes of Spinal Muscular Atrophy

It is a genetic disorder. It is a two part, passive autosomal disorder (5q-SMA). It is caused by alterations in the SMN1 (survival motor neuron) gene which is located on chromosome 5 (hence the 5q). For someone to have SMA, they must receive two SMN1 defective genes, one from each parent.

Symptoms of Spinal Muscular Atrophy

The dominant clinical features of the disease include weakness of the muscles of legs and shoulders. The weakness and muscle wasting get progressively worse over time and can eventually lead to total paralysis and death. Patients with SMA also have significant problems with activity (walking, crawling, eye coordination), neck and hand control, dysphagias (trouble swallowing), and an alarmingly high possibility of respiratory issues from weakness of the respiratory muscles in the lungs. Other signs and symptoms include:

  • Muscle atrophy 
  • Muscle weakness
  • Areflexia
  • Difficulty Breathing
  • Thin muscle mass
  • Difficulty swallowing or eating
  • Lack of head and neck control
  • Involuntary facial twitching
  • Muscle changes consistent with atrophy
  • Muscle tremoring 
  • Sensory neuropathies 
  • Difficulty sitting, or walking, or crawling (infants)
  • Thin muscle mass
  • Absent tendon reflexes
  • Fasciculation
  • Club foot
  • Impotency, ED and/or loss of sexual potency

Diagnosis of Spinal Muscular Atrophy

Screening and diagnosis for Spinal Muscular Atrophy (SMA) can take place pre-pregnancy, during pregnancy, or post-pregnancy. No matter when testing is conducted, a formal diagnosis by a neurologist in the patient’s country of registration is needed. Pre-conception testing can include blood, tissue, or genetics tests at OB/PERINATAL Labs. This allows prospective parents to determine if they carry the SMA gene prior to getting pregnant or during their pregnancies. For individuals who already exhibit symptoms, blood work is used to diagnose the defective gene that causes SMA. Doctors can also perform a clinical exam to check for clinical presentation such as decreased or absent tendon reflexes, involuntary twitching of muscle groups, as well as progressive muscle weakness or wasting.

Stem cell therapy appears to be a new treatment option for SMA. Stem cells do not simply treat symptoms like traditional treatments, which may prevent additional nerve degeneration; they have both cell replacement and neuroprotective properties. Stem cells alter the neuronal microenvironment by unlocking and supporting limb neurons repairing/regenerating, and keeping other normally unaffected (surviving) motor neurons engaged. There are many different sources of stem cells being researched, and more often than not, treated patients have shown increased motor function, improved balance, muscle tone, strength, swallowing ability, speech abilities, etc. Disease progression after stem cell transplantation decreased significantly and slowed down greatly.

Treatment of Spinal Muscular Atrophy

SMA is caused by a defective gene, SMN1 (Survival Motor Neuron 1), that is sometimes completely missing or severely mutated. SMA, or “Survival Motor Neuron,” is a protein created by SMN1. This protein (or lack of it) is required for all humans to have healthy motor neurons (nerve cells), which are the wires that carry signals from the spinal cord to muscles in our bodies. Without the SMN protein, our nerve cells will continue to atrophy and eventually die, which creates the effects of weak/limp muscles.

FAQs

1. What is Spinal Muscular Atrophy (SMA)?

SMA is a rare genetic motor neuron disorder caused by mutations in the SMN1 gene. It causes progressive muscular weakness, difficulties with walking, swallowing and breathing and can present in patients from infantile to adulthood.

2. How is SMA diagnosed?

Diagnosis can be made pre-, intra-, or post-natal whilst screening for genetic material in blood or other tissues. For symptomatic patients, neurologists confirm SMA from blood tests for defective genes and a clinical examination of reflexes, muscle wasting, and twitching.

3. How will stem cell therapy help SMA patients?

Stem cell therapy will assist in the regeneration of damaged motor neurons and the therapeutic delivery of neuroprotective effects. Stem cell therapy has improved areas such as muscle tone and strength, breathing, swallowing, coordination, and can significantly slow the progression of the disease.

4. Why would I want to consider stem cell treatment in Delhi, India?

Advanced hospitals and doctors in Delhi work with tailored SMA protocols in conjunction with world-class experts and cost-effective stem cell therapies to restore motor function and improve quality of life.