Familial Spastic Diplegia

DIPLEGIA SPASTICA FAMILIALIS, familial spastic diplegia, a disease of endogenous origin, characterized mainly by phenomena of bilateral pyramidal tract loss and often affecting several members of one family. Pathoanatomically, in the majority of typical cases, degeneration of the lateral pyramidal tracts was discovered. Furthermore, degeneration of other systems was very often observed—the direct cerebellar tracts, Goll's columns, and the anterior pyramidal tracts. A decrease in the number of cells in the cortex of the motor area, cells of the anterior horns, and Clarke's columns was also noted. In some cases, a significant decrease in cells and fibers throughout the entire nervous system was discovered. The clinical picture is expressed by weakness of the lower extremities and gait disturbance, developing gradually. The initial complaints of the patient include stiffness in the lower extremities, rapid fatigue of the legs when walking, and tremors. Gradually, a characteristic spastic gait develops, and finally, insurmountable contractures may occur. For a long time, spasms prevail over pareses. Tendon reflexes are increased; foot and patellar clonus and pathological reflexes are observed. Skin reflexes are preserved. Sensitivity and sphincters are not disturbed. There is no pain, paresthesia, or trophic disorders. Sometimes vasomotor phenomena are observed. The painful phenomena usually develop symmetrically. The course of the disease is progressive. In the most typical forms, there is exclusively spastic paresis of the lower extremities (Strümpell's spastic paraplegia); in other forms, involvement of the upper extremities is added to this (spastic diplegia). To this picture, symptoms indicating involvement of other areas of the nervous system may later be added, e.g., atrophy of the optic nerves, nystagmus, weakness of the external eye muscles, tremors, curvature of the spine, epileptic seizures, and significant changes in the psyche. In other cases, symptoms are observed that link this disease with other familial dystrophies (myopathies, Friedreich's and Marie's disease, etc.). Differential diagnosis can present great difficulties. In this regard, it is necessary to keep in mind amyotrophic lateral sclerosis, hydrocephalus, multiple sclerosis, syphilitic lesions of the spinal cord, and compression myelitis. The fact of the familial nature of the disease cannot always be conclusive, as a similar picture can be caused in members of the same family by various other reasons. For example, the appearance of Little's symptom complex in brothers and sisters due to the same pathological cause (syphilis, narrow pelvis of the mother) is observed. A progressive course in such cases is the most characteristic sign of D. s. infantilis progressiva familialis. In doubtful cases, examination of the cerebrospinal fluid, which does not show changes in familial diplegia, can sometimes be decisive. The type of inheritance can be both dominant and recessive, with milder cases following the second type. Consanguinity among parents is often observed. Therapeutically, for the duration of the disease, orthopedic intervention may be recommended.