The first and characteristic symptom of ataxia is uncertainty of the gait. The child walks with legs wide apart and the body sways from side to side. In severe cases, particularly' -when the cerebellar symptoms predominate, the gait becomes reeling like that of a drunkard (cerebellar gait). The disturbance of coordination afrects not only the walking (locomotor ataxia) but the standing and sitting postures as well (static ataxia), manifesting itself in a constant search after fresh points of support and inability to keep quiet. Romberg's phenomenon (swaying ichen the eyes are closed) is les.s marked in the spinal than in the cerebellar form. The motor unrest is not confined to the legs and early involves other portions of the body, produeing wobbling of the head. tremor of the hands, resembling intention tremor, ancl of the entire trunk, at times exhibiting the character of a simple tremor, at others that of choreic or athetoid movements. Pronounced partial or com plete paralysis of the legs is rare and. with few exceptions, constitutes a late symptom of hereditary ataxia. On the other hand, peculiar malformations of the feet are quite characteristic of the spinal form of ataxia. The malformations are caused by overextension of the large toe, which niay be an early symptom. Rtitimeyer reports that in a certain family the anxious parents recognized by this .syniptom alone that another of their children had been attaeked by the baneful disease. Sometimes the deformity does not proceed beyond this hyperextension of the great toe, with pes equinus. As a rule, how-ever, it is followed by a further malformation of the foot and clawlike position of the toes. Whether these changes in the foot are due to atrophy of the tarsal bones of the foot flluchenne and others) or to disturbances of equilibrium (Besold) is still undecided. The Rontgen rays do not show any anoma lies in the skeleton. This deformity of the foot, which was formerly ascribed exclusively to Friedreieh's disease, has also been observed in cases which otherwise correspond to the cerebellar type.
In regard to the behavior of the patellar reflex the difference at first observed between the two forms of ataxia has also been found to be inconstant. It is quite true, however, that the reflexes usually disappear early in Friedreich's tabes and are exaggerated in hereditary ataxia; but there are spinal forms with exaggerated, and cerebellar forms with diminished reflexes, and the reflexes may differ in the two legs or in members of the same family who otherwise present the same disturbances. A frequent concomitant of spinal ataxia, when it has existed for sonie time, is scoliosis or kyphoscoliosis, which must be attributed to weak ness of the spinal muscles. Rlarked muscular atrophy occurs both as the result of disuse, particularly in the legs, and in the form of isolated muscular atrophies, particularly- of the muscles of the hand. Combi nations of hereditary ataxia with atrophy of the peroneal type or pseudo hypertrophy form the transition to the myopathies, which will be described later.
Sensory disturbances do not belong to the regular pieture of heredi tary ataxia, although they have been observed, especially in the cere bellar form. The muscle sense is always intact. Spontaneous pain, particularly pain of lancinating character, is extremely rare. The cutaneous reflexes are usually preserved but. sometimes diminish in strength in the course of the (lisease. Paralysis of the bladder and rectum develops only 111 very advanced cases.
Hereditary ataxia is accompanied by a series of very important cerebral symptoms. Nystagmus is extremely common in the spinal form and usually absent in the cerebellar type. Disturbances of the ocular muscles, such as strabismus, ptosis, and diplopia, have frequently been observed, especially in Marie's form. Geniune or neuritic atrophy
of the optic nerve is quite common, particularly in 116r6doataxie. The pupils are usually normal. Disturba»ces of speech are regularly prese»t in hereditary ataxia. Speech is slow, awkward and sometimes scanning. Rlarie compares it to the cerebellar gait. Disturbances of speech are particularly associated with Friedrich's form of ataxia and increase in severity as the (disease progresses. The intellect is also impaired partic ularly in the spinal form, and there nnty be actual dementia. Among the unimportant and infrequent symptoms are vertigo, disturbances of the respiration, profuse salivation and forced laughter.
The course of hereditary ataxia is fortunately extremely slow. The malady progresses very gradually and it is usually years before the patient is confined to his bed. Even after that, a period of from five to ten years may elapse before life is terminated by some inter current disease, usually some affection of the respiratory organs.
The pathologic findings in hereditary ataxia, based on a large num ber of autopsies, also represent nunierous transitions between what is found in typical cases of Friedreich's tabes and the pathology of b6re. doataxie cerebelleuse. The characteristic changes in Friedreich'.s ataxia are diminution of the spinal cord as a whole, sclerosis of the posterior colunins, that is, the columns of Go11 in their entire extent and the columns of Burdach, in varying degrees of intensity and extent—in short, disease of the posterior roots. In addition, other portions of the spinal cord, such as the lateral cerebellar traet, the columns of Clark and Gowers' bundles are usually affected. Frieclreich's disease is there fore an example of a system-disease—simple when the posterior columns only are diseased and combined when (lie pyramidal tracts also are affected. In typical cases of heredoataxie cnrobelleuse marked atrophy of the cerebelltu» as a whole and of its cellular and nervous elements, and degeneration of the nerve tracts derived from the cerebellmn are found. This condition, which used to be regarded as characteristic of the cerebellar form, is not confined to this type, since it has been found in cases of Friedreich's simple tabes; while conversely, these cerebellar symptoms may be absent in apparently typical cases of Marie's disease. If we also include under the head of Marie's disease cases with simultaneous lesions in the cerebellum and in the posterior columns, we see that the uncertainty of the clinical distinction between the two forms finds its counterpart in the pathologic picture. We may therefore regard hereditary ataxia as an endogenous disease of the static system, in which we must include both the organ of equilibrium (cerebellum) and the systems of the posterior columns.
The differential diagnosis from tribes dorsalis (Ind other syphilitic affections, brain tumor, and the spastic diseases niay present some difficulties. But ataxia as a rule is not an early symptom in infantile tabes, while, on the other hand, rigidity of the pupils, bladder disturb ances and lancinating pain are frequent. A brain tumor, particularly when situated in the cerebellum, often produces symptoms simulating those of hereditary ataxia; but the signs of general cerebral pressure are more pronounced and the course is more rapid. A sharp distinction from the other forms of hereditary disease is not of very great impor tance since the occurrence of transitional forms is quite characteristic of these hereditary conditions. Hysteria, neurasthenia and familial tremors rarely need to be considered in the differential diagnosis.