Hereditary spastic paraplegia

August 12, 2017 17:51 | Genetic Diseases

Hereditary spastic paraplegia - diverse in its manifestations, and genetic disorders group of diseases, the main manifestation of which is a light paralysis of the lower extremities with increased muscle tone due to lesions of the spinal cord.For the first time spastic paraplegia described in 1880. The incidence of diseases of this group ranges from 1-7 cases per 100 000 population.It is noted uneven geographical and ethnic distribution of spastic paraplegia.Marked accumulation of cases in certain regions associated with the history of the formation of the population.

Hereditary spastic paraplegia differ in the type of inheritance.Among them are autosomal dominant, autosomal recessive and X-linked form.Also disease can occur in an uncomplicated manner.At the same time a person develops isolated light paresis of the lower extremities with increased muscle tone.In addition to uncomplicated, there are also complicated forms of the disease are characterized by the development of other signs of damage to t

he nervous system, as well as the emergence of symptoms of involvement in the pathological process of other organs and body systems.These characteristics include:. Blurred vision (due to lesions of the optic nerve and retina), dementia, impaired coordination of movements, excessive dryness and flaking of the skin, mental retardation, deafness, etc.

age at which the first signs of the disease varies widelyrange.The literature describes cases of both early (10-20 years) and late (50-60 years) the occurrence of the disease.In "pure" form of the disease is gradually emerging sense of tightness, stiffness in the legs when walking, which are more pronounced in the beginning of the walk, and then decrease.This phenomenon is called symptom "reciprocation".Often the surrounding notice before a change of gait of the patient.With increasing muscle tone is becoming increasingly difficult to walk, there is the difficulty and limitation of bending the legs at the knee and hip joints, bringing the hips to the median line of the body, there is a difficulty tearing feet from the floor ( "skier gait"), and walking itself requires considerable effort.Often it increases muscle tone in the vertical position - a tone support.Increased tendon reflexes, in response to a sudden there is a touch of rhythmic contraction of one muscle or group of muscles of the foot, as well as the patella, there are pathological reflexes.Often violations reflexes are the earliest signs of the disease.A characteristic feature of spastic paraplegia is a marked prevalence of abnormally high muscle tone of paresis (weakening of voluntary movements).Increase of muscle tone at the hands and later developed significantly less pronounced than the lower limbs.With increasing duration of the disease is increasing tone and muscle weakness, can not join pronounced disorders of urination and stool.In addition, the possible reduction in vibration sensation in the legs.Intelligence is usually not affected.During the special methods of investigation reveal atrophic changes throughout the spinal cord.

With reliable accuracy of spastic paraplegia can tell if the following signs:

1) recurrent cases of the disease in the family;

2) incomplete paresis (impaired voluntary movement) with a predominance of the lower extremities elevated tone of the phenomena of paresis;

3) the absence of disorders of skin sensitivity and long-term preservation of pelvic functions (stool and urine output);

4) atrophic changes of the spinal cord, revealed during the special methods of investigation;

5) slowly progressive course.

Treatment .Effective treatment presently not developed.Applied drugs that reduce muscle tone: Mydocalmum, baclofen, sirdalud.It is expedient electrophoresis sodium hydroxybutyrate on the area of ​​the feet, paraffin or ozocerite baths, acupressure, physiotherapy, as well as the administration of drugs that enhance metabolism.