Hereditary spastic paraplegia

Hereditary spastic paraplegia is a heterogeneous group of diseases due to its manifestations and genetic disorders, the main manifestation of which is mild paralysis of the lower extremities with increased muscle tone due to spinal cord injury. For the first time spastic paraplegia were described in 1880. The frequency of occurrence of diseases of this group varies between 1-7 cases per 100 000 population. At the same time, the uneven geographical and ethnic distribution of spastic paraplegia is noted. Accumulation of cases of disease in some regions, related to the history of population formation, was noted.

Hereditary spastic paraplegia differ in the type of inheritance. Among them, autosomal dominant, autosomal recessive and X-linked forms are isolated. Also, the disease can occur in an uncomplicated form. In this case, an isolated mild paresis of the lower extremities develops in the person with an increase in the muscle tone. In addition to uncomplicated, there are also complicated forms of the disease, which are characterized by the development of other signs of damage to the nervous system, as well as the appearance of symptoms of involvement in the pathological process of other organs and systems of the body. Such signs include: visual impairment( due to damage to the optic nerves and retina), dementia, impaired coordination of movements, increased dryness and flaking of the skin, mental retardation, deafness, etc.

The age at which the first signs of the disease appear varies widely. In the literature, cases are described with both early( 10-20 years) and with late( 50-60 years) occurrence of the disease. With "pure" forms of the disease, gradually there are feelings of stiffness, stiffness in the legs when walking, which are more pronounced at the beginning of walking, and then decrease. This phenomenon is called the "pacing" symptom. Often, others notice a change in gait before the patient himself. As the muscle tone increases, it becomes more difficult to walk, difficulty and limitation of leg bend in the knee and hip joints, bringing the hips to the midline of the body, there is the difficulty of tearing off the feet from the floor( "gait of the skier"), and walking itself requires considerable effort. Often the muscle tone rises in an upright position - the tone of the support. The tendon reflexes increase, in response to a sudden touch there is a rhythmic contraction of one muscle or group of foot muscles, as well as a patella, pathological reflexes appear. Quite often violations of reflexes are the earliest signs of the disease. A characteristic feature of spastic paraplegia is a marked predominance of excessive muscle tone over the paresis( weakening of voluntary movements).The increase in muscle tone in the hands develops much later and is less expressed in comparison with the lower limbs. As the duration of the disease increases, the tone and muscle weakness increase, and not violent disorders of stool and urination may join. In addition, it is possible to reduce the vibration sensitivity in the legs. Intellect, as a rule, does not suffer. At carrying out of special methods of research reveal atrophic changes on all extent of a spinal cord.

With reliable accuracy about spastic paraplegia, you can speak if there are the following symptoms:

1) repeated cases of the disease in the family;

2) incomplete paresis( violation of voluntary movements) of the lower extremities with a predominance of increased tone over the phenomena of the paresis;

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

4) atrophic changes in the spinal cord, identified by special methods of investigation;

5) slowly progressing course.

Treatment of .Effective treatment is currently not developed. Apply drugs that reduce muscle tone: midokalm, baclofen, sirdalud. It is advisable to electrolyze sodium oxybutyrate on the legs, paraffin or ozocerite applications, acupressure, physiotherapy, and the use of drugs that improve metabolism.