August
12
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Spinal muscular atrophy

Under spinal muscular atrophy refers to a heterogeneous group of hereditary diseases, which are characterized by the occurrence of degenerative changes in specific cells of the spinal cord, are directly involved in the implementation of movements.These diseases are accompanied by weakness and atrophy of skeletal muscle.According to the studies it was found that in one family spinal muscular atrophy can be of various shapes.

spinal muscular atrophy childhood

To date, there are three types of spinal muscular atrophy childhood:

  • Werdnig-Hoffmann;
  • intermediate;
  • Kugelberg-Welander.

In addition, children's literature describes spinal muscular atrophy, combined with congenital fractures, underdevelopment of brain structures, congenital heart disease, the formation of early respiratory failure, arthrogryposis.By the latter is meant the presence of disease congenital disorders of the musculoskeletal system, is to restrict the normal mobility in joints of limbs due to the occurrence of muscle atrophy and

fatty replacement of muscle fibers and connective tissue.In the presence of arthrogryposis child is in position when the upper limbs are pressed to the body, elbows are excessive unfolded and hand clenched into fists.In appearance they resemble the legs bird of prey.The lower limbs are bent at the hips, and divorced in hand, and they straighten the knee joints.In addition, due to deformation of the joints is formed deformity.For spinal muscular atrophy is characterized by the inheritance of an autosomal recessive manner.

first signs of spinal muscular atrophy differ at different variants of pathology.In the case of type I disease first manifests itself in the first months of life for the second type II manifestations characteristic appearance early in life, and in the case of type III - aged 10-20 years.

At I type mother has during pregnancy can be paid attention to weak and late fetal movements.As a typical symptom of the occurrence of acts of fine tremor (tremor) fingers extended handles.In some cases the detection of twitching muscles of the tongue.Typical features also include the weakening or disappearance of tendon reflexes, skeletal deformities, limitation of normal mobility in the joint.On the mental side of children's development does not suffer.

If you have type II disease occurs more slowly.As the main feature serves no opportunity to stand up.

In the case of spinal muscular atrophy type III disease progresses very slowly.Due to the weakness of the muscles of the legs and pelvis difficult walking, standing up, turning up the stairs.Gradually, says the spread of the upper limb.In addition, there is usually a marked increase in size of the gluteus and calf muscles.There gradually fading tendon reflexes.The muscles of the pelvic girdle and shoulder the majority of patients the occurrence of distinct twitches.Less commonly, they may occur in the muscles of the forearm and lower leg.Sick persons long the self-service.

Signs of spinal muscular atrophy

The main features characteristic of spinal muscular atrophy include:

  • presence of an autosomal recessive mode of inheritance;
  • appearance of the first symptoms of type I in the first 6 months of life, II type - the age of 1.5 years, III type - after 1.5 years;
  • the emergence of symmetrical weakness and atrophy of the muscles of the trunk and limbs.Usually affects the lower limbs;
  • occurrence of involuntary twitching of muscle fibers limbs, fine tremor of the fingers;
  • presence of characteristic changes in the EEG;
  • occurrence of characteristic changes in the muscle tissue;
  • absence of disorders of pelvic functions and sensitivity;
  • presence of progressive course with a poor prognosis in the I and II types.In type III disease relatively favorable prognosis;
  • presence of positive results in the study of DNA.