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Spinal Muscular Atrophy

It is projected that spinal muscular atrophy affects one in 7000 babies born and that about one in 50 individuals are hereditary carriers of the disease. SMA is an autosomal recessive genetic malady which means that maximum cases of SMA can be attributed to getting substandard genes from both parents. It is believed that if both parents are carriers of this hereditary disorder to chance of the child developing this illness is 25%. Potential parents can use genetic testing to see if they are carriers of this gene though PGD pre-implementation genetic diagnosis testing that is available in maximum nations around the world. There are 4 kinds and classifications of SMA disease

  • SMA type I which is the most severe type is also acknowledged as Werdnig-Hoffman disease.
  • SMA type II is less severe than type I asked patients normally infants do not show symptoms of SMA during early embryonic stage however over time they become weaker and weaker.
  • SMA type III is less severe form and normally starts in early adulthood and gradually gets worse as the patient’s age.
  • SMA type IV is the least severe category of the disease where weakness and muscle wasting usually begin in adulthood.

Because of its genetic nature, there is no perpetual cure for this disease. Neural stem cell transplants and gene therapy are presently the most effective treatment options for control and remission of spinal-muscular atrophy.

Symptoms

Muscle weakness in the legs and shoulder muscles are the leading signs of the disease. Weakness and muscle atrophy get considerably worse over time and can ultimately result in complete paralysis and death. Patients with SMA also have substantial difficulty with physical activities such as walking, crawling and eye coordination, neck and hand control and dysphagia (trouble swallowing). Patients with SMA also have ominously higher risk for developing breathing problems because of the respiratory muscles in the lungs failing. Other symptoms include:

  • Muscle atrophy
  • Muscle weakness
  • Areflexia
  • Trouble Breathing
  • Thin muscle mass
  • Trouble eating or swallowing
  • Deficiency of head and neck control
  • Involuntary facial twitching
  • Atrophic muscle changes
  • Muscle trembling
  • Sensory neuropathies
  • Trouble sitting up or walking or crawling (infants )
  • Thin muscle mass
  • Missing tendon reflexes
  • Fasciculations
  • Clubfoot
  • Impotency,ED and/or reduction in sexual potency

Testing and Diagnosis

Testing or diagnosis SMA can be implemented before, during or even after pregnancy. Please note we do note a diagnosis from a neurologist in your home nation is required for all prospective patients. The first 2 options are preventative in nature and can be executed using blood, tissue or genetic samples at a prenatal testing lab. The last option is for those that are alive but displaying symptoms of the disease. Blood samples are necessary for hereditary testing to check for the defective gene that causes SMA. Physical inspections can also be carried out by skilled physicians to search for certain signs and symptoms such as:

  • Reduction or lack of tendon reflexes
  • Spontaneous twitching of muscle fibers
  • Signs of muscle weakness and/or wastage

Why stem cells work for spinal muscular atrophy (SMA)

Stem Cell Therapy is considered to be a substitute method for treating Spinal Muscular Atrophy (SMA) and other neurodegenerative maladies. Stem cell transplantation is a prospective therapeutic strategy not only via cell replacement but also by modification of the extracellular motor neuronal environment, via a trophic and neuro protective effect. A variety of cell sources have been considered for cell therapy. Several of the treated patients showed major improvements in motor function, muscle tone and strength, speech and swallowing, balance and harmonization and fine and gross motor skills. Furthermore, the disease progression has been reported to be considerably slower after stem cell transplantation.

Improvements

Spinal Muscular Atrophy (SMA) patients treated with stem cells typically observe improvements in the following expanses:

  • Motor Function
  • Balance
  • Neuropathic Pain
  • Muscle tone and strength
  • Coordination
  • Fatigue
  • Tremors
  • Speech
  • Fine and gross motor
  • Swallowing
  • Slowed down progression and more

Mechanisms

Mesenchymal Stem Cells (MSCs) are very eye-catching multipotent stem cells for Spinal Muscular Atrophy (SMA) cell therapy owing to their great plasticity and their aptitude to provide the host tissue with growth factors and to moderate the host immune system. The MSCs transplantation upsurges neuron survival and prevents gliosis, as microglia and astrocytes are both the target and reason of neuroinflammation, MSCs can save neurons and oligodendrocytes from apoptosis via the release of trophic and anti-apoptotic molecules, occasioning in the induction of a neuroprotective micro environment. Furthermore, Mesenchymal Stem Cells can promote the proliferation and maturation of local neural precursor cells, leading to their differentiation into mature neurons and oligodendrocytes.

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