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It is an autosomal recessive disease, that is, for the disease to manifest, both parents must have a mutation in their genetic material or a random mutation occurs without damage to the parents (de novo).

 It is the third most common in Greece (1-12 births in Greece, 1:6,000-11,000 births per year and worldwide) and concerns the lack of a protein, called SMN (Survival of Motor Neuron), with great importance in the functioning of motor neurons , i.e. the nerve cells that control the muscles. There are two mutated regions in the genetic material, the survival motor neuron 1 and 2 (SMN1 and SMN2) genes. When there is a mutation in SMN1 we get disease, but how severe the symptoms are also depends on the SMN2 mutations, the fewer there are, the milder the symptoms are. There are rarer mutations elsewhere in the genetic material, such as on the X chromosome, that lead to rare forms of Spinal Muscular Atrophy.

Symptoms

It is generally true that the younger the age of onset of symptoms, the more severe the progression of the disease. There are subtypes of the disease, but most patients present with symmetrical muscle weakness mainly in the center of the body, shoulders, hips, thighs and upper back, with the legs appearing weaker than the arms and neck and face being affected. Complications occur when the respiratory muscles and the muscles involved in swallowing are affected, causing serious respiratory infections. In addition, loss of reflexes, presence of tremors and scoliosis or even kyphosis and other bone problems occur. Classification into the following types has been made based on age of onset of symptoms and ability to move.

Guys

Type 0 – Symptoms are present from fetal age, causing death during pregnancy or immediately after birth.

Type I (or Werdnig-Hoffmann) – Symptoms appear during the first months of the newborn's life, characterized by muscle weakness that adversely affects breathing, movement and swallowing. There is generalized lethargy and weak crying. It is the most common form, 50-70%.Type I (or Werdnig-Hoffmann) – Symptoms appear during the first months of the newborn's life, characterized by muscle weakness that adversely affects breathing, movement and swallowing. There is generalized lethargy and weak crying. It is the most common form, 50-70%.

Type II – Presents in children 7 months to 18 months. It presents with a great heterogeneity of symptoms in each child, but assisted standing or walking, breathing difficulty, difficulty chewing and swallowing are common.

Type III (or Kugelberg – Welander) – Muscle weakness occurs after 18 months and progresses to perhaps adulthood. Usually the ability to walk is not assisted in these cases, especially in childhood. Perhaps the use of a wheelchair during the progression of the disease is deemed necessary.Type III (or Kugelberg – Welander) – Muscle weakness occurs after 18 months and progresses to perhaps adulthood. Usually the ability to walk is not assisted in these cases, especially in childhood. Perhaps the use of a wheelchair during the progression of the disease is deemed necessary.Type IV – Appears in adulthood and there is a possibility of moderate form of muscle weakness.

Diagnosis

It can be achieved by taking a family history, with an appropriate clinical examination, where muscle atrophy or weakness in the trunk, upper and lower limbs, breathing problems is identified and assessed, as well as mainly with genetic testing, with a muscle biopsy (rarely) and with an elect It can be achieved by taking a family history, with an appropriate clinical examination, where muscle atrophy or weakness in the trunk, upper and lower limbs, breathing problems is identified and assessed, as well as mainly with genetic testing, with a muscle biopsy (rarely) and with an elect.

Prevention

Prevention can be achieved through prenatal screening, when there is a similar history, with pre-implantation diagnosis at the beginning of pregnancy, screening in newborns (newborn screening), as well as screening (screening) carriers in families of patients or in the general population. romyogram (rarely).Prevention can be achieved through prenatal screening, when there is a similar history, with pre-implantation diagnosis at the beginning of pregnancy, screening in newborns (newborn screening), as well as screening (screening) carriers in families of patients or in the general population. romyogram (rarely).