Chapter II: The Peculiarities of Certain Accidental Acute and Chronic Diseases (8)

The anterior roots of the spinal nerves exhibit alterations in a large number of instances. Cruveilhier called attention to them in the celebrated case of the rope-dancer Lecomte. At the autopsy, the brain, the cord, and posterior roots were found normal, but the anterior roots, from the point of exit to where they unite with the posterior, were greatly atrophied. In another case the anterior roots were to the posterior in thickness, in the cervical region, in the ratio of 1:10, while the normal ratio is 1:3; {545} in the dorsal region as 1:5, while the normal is as 1:1½ or 2. The posterior roots, brain, and cord were again unchanged. Up to 1876, Eulenburg had collected 26 cases in which this alteration existed, and 19 in which it was absent. In the case of Wood and Dercum, referred to, this atrophy of the anterior nerve-roots existed, making 27 positive cases and 19 negative.

We come, finally, to the spinal cord as the seat of changes, and we are met by Eulenburg's statistics, according to which, up to the date of his article, there were 34 cases of positive disease and 15 negative. To the former we have again to add the case of Wood and Dercum, making 35 against 15. These alterations are by no means constant as to seat and character. Thus, Valentiner, who seems to have been the first after Cruveilhier, in 1853, to record any, found in 1855, in the centre of the cord, in the neighborhood of the three lowest cervical and upper dorsal nerves, that the elements in the region of transition from gray to white substance were obliterated, and the softened place contained numerous compound granule-cells. Schneevogt also found a softening of the cord from the fifth cervical to the second dorsal nerve, Frommann described a red softening from the medulla oblongata downward, involving chiefly the anterior and lateral columns, and especially the commissures and the innermost parts of the anterior columns lying next the commissure.

Luys found the gray matter in the neighborhood of the cervical enlargement full of hyperæmic vessels, which were surrounded with granular masses (compound granule-cells?). The same granular masses, together with numerous corpora amylacea, were scattered throughout the gray substance. The ganglion-cells of the anterior cornua had almost disappeared in the part affected, and appeared to be replaced by the granular masses. Here and there a few ganglion-cells could be recognized in a state of retrograde metamorphosis, pigmented and bereft of their polar prolongations. In this case the degeneration affected principally the left anterior cornu, and it was the left side of the body which was affected by the atrophy. The anterior roots of the spinal nerves on the left side were also atrophied. Lockhart Clarke found essentially the same changes in no less than six cases, and Duménil, Schueppel, Hayem, Charcot (six or seven autopsies), Joffroy, and lately Wood and Dercum,[23] have added others. The last two observers found changes in the lower portion of the cervical enlargement of the cord, and state in the report of their case that "in the anterior cornua of the gray matter there is a marked diminution in the number of nerve-cells. Of the three groups of these cells, the anterior has almost entirely disappeared, the lateral group is represented by but a few individual cells, while the internal group seems to have undergone a less marked change. All of these cells, with the exception of a few in the internal group, appear shrunken, and are evidently much diminished in size. They have lost in great part their polygonal shape, many of them being fusiform, and present but few processes. Only in the internal group are these cells in any way approaching the normal type, and these are few and seen in only a few of the sections. They present the characteristic size and numerous processes of the typical motor-cell, while they disclose a well-defined nucleus and nucleolus. In the atrophied cells the nuclei can only be distinguished with difficulty.

{546} "The neuroglia of the anterior cornua is increased in amount; the vessels appear shrunken, with thickened walls and large perivascular lymph-spaces.

"In the lumbar cord the cells in the anterior cornua appear normal: in this respect the lumbar cord is in marked contrast with the cervical."

[Footnote 23: _Loc. cit._]

Another class of cases recorded by Gull,[24] Schueppel and Grimm, Hallopeau and Westphal, consist in dilatation of the central spinal canal with more or less complete destruction of the gray substance, and in Grimm's case hyperplasia of the connective tissue in the white substance along with increase of the axis-cylinders. The nerve-roots were in a state of fatty degeneration, especially the finer fibres of the anterior roots.

[Footnote 24: _Guy's Hospital Reports_, 1862.]

Still another set of observations discovers a degenerative atrophy of the white columns only of the cord, sometimes the antero-lateral columns and sometimes the posterior. Virchow, Friedreich, and Swarzenski each found typical gray degeneration of the posterior columns, in one instance recognizable by the naked eye. Atrophy of the antero-lateral columns was noted by Frommann and Baudrimont; atrophy of the antero-lateral columns, conjoined with inflammatory changes in the gray substance and atrophy of ganglion-cells, by Duménil; changes in the antero-lateral gray substance and posterior columns by Clarke. Changes have even been found in the posterior cornua and posterior nerve-roots in a few cases, although not confined to them.

Finally, the lesions of this singular disease have been sought also in the sympathetic, and not without some success. Eulenburg's analysis discovered 5 positive observations and 14 negative ones. To the positive must be added the case of Wood and Dercum, who reported a marked increase in the amount of connective tissue and a granular state of the ganglion-cells without diminution in number. Among the changes in the sympathetic were thinning of its trunk and of the two upper ganglia observed by Swarzenski, and advanced fibrous fatty change of the cervical and thoracic portion, with abundant hyperplasia of connective tissue, disappearance of nerve-fibres and regressive metamorphosis of ganglion-cells by Duménil.

PATHOGENY.--We come now to consider the relation of these changes to the muscular atrophy which constitutes the conspicuous symptom of the disease. There are three possible views of the pathology of this affection. According to one, it is a muscular or myopathic disease in the strict sense of the term. Such muscular disease may be primarily inflammatory, a myositis--as Friedreich sought to prove in his great work--followed by fatty metamorphosis of the sarcous substance and subsequent absorption of the fat; or it may be a simple fatty metamorphosis. According to a second view, it is primarily an affection of peripheral nerves or of the anterior roots of the spinal nerves, with secondary muscular atrophy. According to a third, it is a disease of the spinal cord, and more particularly of the anterior cornua of the gray matter--a poliomyelitis anterior.

A careful study of the morbid conditions as described in the various cases reported leads me to adopt the last view. In the first place, the number of instances of positive disease of the spinal cord exceed those of any other seats of alteration, and although the changes do not always involve the anterior cornua, yet it will be noted, from an examination {547} of the foregoing paragraphs, that a decided majority involve either the anterior cornua alone or these in connection with the antero-lateral columns, the number of cases of disease of the antero-lateral columns alone or of the posterior columns and posterior nerve-roots being very limited. Again, the number of instances in which lesions of the anterior cornua are found increases as our means of accurate investigation improve.

If we add to these considerations the fact that the symptoms are best explained by such a view, little more seems required to establish it. Recalling the well-known observation of Waller, confirmed by Bernard and others, that after section of the anterior root of a spinal nerve the distal end wastes, while the central end remains intact, because it is still connected with its own trophic centre, we have in this the explanation why atrophy of the anterior roots is also so common a symptom in progressive muscular atrophy. The fibres of the anterior roots arise from the cells of the anterior cornua, and disease of the latter must unfavorably influence the nutrition of the former; hence their atrophy. This atrophy of motor nerve-filaments is continued into the mixed nerves distributed to muscles, but is less easily demonstrable by reason of the gradually diminishing size of the nerve-trunks and by the fact that they are united in the mixed nerve with the sensory fibres from the posterior roots, which do not suffer atrophy. In consequence of the degeneration of these nerves follows degeneration of the muscles to which they are distributed, so that the alterations in the latter are altogether secondary.

From this point of view the disease in question is to be regarded as a chronic form of poliomyelitis anterior, while the essential infantile paralysis of Rilliet and Barthez would correspond to the acute form of the disease.

The association of changes in the anterior roots with others in the spinal cord may be explained either on the ground of extension by continuity to adjacent parts, or on that of coincidence. In illustration of the latter I may refer to a case recently reported from Mendel's clinic[25] in Berlin, in which the symptoms of progressive muscular atrophy were associated with those of tabes dorsalis or progressive locomotor ataxia. Here it is not unlikely that the coincidence is merely accidental; and this was Mendel's opinion in this case. In other instances the involvement of other portions of the spinal cord may be a result of an extension of the disease from its true seat, while many cases described as progressive muscular atrophy are not such at all, but are in part the result of other affections of the spinal cord. It is evident, also, that this order may be reversed, as in a case reported by Eulenburg[26] to the Berlin Medical Society.

[Footnote 25: _Philada. Medical News_, Sept. 12, 1885, p. 188.]

[Footnote 26: _Berliner klin. Wochenschr._, No. 15, April 13, 1885.]

SYMPTOMS.--The first distinctive symptom of the disease under consideration is the muscular atrophy or wasting. However general it may subsequently become, it is at first localized. The upper extremity is by far the most frequently involved--7 out of 9 times in Aran's cases. Sandahl out of 62 cases found the right upper extremity attacked 37 times, the left in 14 instances, and both in 11. In Friedreich's statistics it occurred first in the upper 111 times out of 146, while the lower was invaded 27 times, {548} and the lumbar muscles 8. Most frequently it begins in some muscle or group of muscles in the right hand, either the interossei or those of the ball of the thumb. Of the interossei, the external interosseus is usually the first affected. Thence it extends to the other interossei, and soon very striking depressions make their appearance between the metacarpal bones, and the extensor tendons on the dorsum, and the flexors in the palm become as distinct as if dissected out. Succeeding this follows contraction of the flexor tendons until the picture seen in Fig. 32 is produced, in which 1 exhibits the anterior surface of the hand, and 2 the posterior.

_a_, Ends of the metacarpal bones; _b_, Tendons of the flexor sublimis; _c_, Muscles of the ball of the thumb.]

Opinion is not unanimous as to whether the atrophy when beginning in the hand involves first the thenar muscles or the interossei. Roberts, Wachsmuth, and Friedreich say that it begins, as a rule, in the thumb; Eulenburg, that it invariably begins in the interossei. From the interossei it may creep up the forearm, and thence to the arm, or it may skip the forearm and pass into the arm, although the triceps extensor muscle is usually spared. It may come to a standstill in either of those places, but may involve the muscle of the shoulder, especially the deltoid. When the latter and the arm are involved, a picture like that of Fig. 33 is produced.

Beginning most frequently in the right, both upper extremities become sooner or later involved.

In other instances in which the upper extremities are previously involved the atrophy begins in the shoulder, in the deltoid--here again the right first. Succeeding the deltoid, the scapular and trapezius muscles may be involved in any order, while a grotesqueness of effect is often produced by reason of certain adjacent muscles retaining their natural size or even being hypertrophied. This is particularly the case with the anterior part of the trapezius, which is almost never involved. With the shoulders first affected, the arm and forearm may retain their usefulness and strength; but the power of lifting the arm from the side, and especially of raising it above the head, is lost. And if the patient wishes to lay hold of anything, he must swing his arm forward with a jerk until it is brought in reach of his fingers, and then it must often be caught up by the pathologically hooked terminations of these.

The muscles of the trunk do, however, become at times involved--the pectorales, the latissimi, serrati, and intercostales, and even the {549} diaphragm and abdominal and lumbar muscles. Life is seriously jeopardized when the intercostals and diaphragm are affected, in consequence of interference with respiration. If the intercostals cease to contract, the upper part of the thorax ceases to move, and if the diaphragm is involved, the epigastric and hypogastric regions are drawn in during inspiration, and talking and singing are interfered with. Even a mild bronchitis is apt to be fatal in consequence of the difficulty in expelling the secretions.

The muscular atrophy thus produced is generally accompanied by a corresponding wasting and retraction of the skin, so that this continues applied to the muscles in the usual manner. In some instances, however, this is not the case, and in these a baggy condition of the skin is added, which gives its subject an appearance which has more than once rendered him valuable to the showman as the elastic-skin man, etc. It sometimes happens, on the other hand, that the atrophy is obscured by an accumulation between the muscle and skin of adipose tissue, and an appearance of hypertrophy rather than atrophy may be produced in consequence, analogous to the same state of affairs in pseudo-hypertrophic paralysis, the relations of which disease to progressive muscular atrophy will be considered under the head of Diagnosis.

At almost any stage the disease may come to a standstill, and may continue thus for many years. The time required to attain its various degrees also varies greatly, but the spread is usually slow, requiring, as a rule, years for its completion. A general involvement of the voluntary muscles of the entire body is exceedingly rare.

As stated, the disease may begin in the lower extremity, but much more rarely. It is very seldom that the same order of invasion pursued in the upper extremity is followed in the lower--that is, beginning with the interossei. It may begin in the thigh and involve it alone, or extend to both {550} thighs, or both legs as well. Under these circumstances weakness of the legs is a striking symptom, the patient being unable to stand, often falling down or requiring a cane or crutches to assist him. In illustration of this mode of invasion may be related one of Roberts's cases, that of an adult woman thirty-eight years old, a domestic servant, in whom at thirty-six was perceived a weakness in the right thigh. She first noticed that it grew tired sooner than the left. This gradually increased, until she was compelled to sit much of the day, then to use a stick, and finally crutches. This was accompanied by a gradual wasting of the thigh-muscles. Even in this case the loss of power was greater than would have been expected from the degree of atrophy, the loss of bulk incident to which Roberts believed to have been in part replaced by fat. In other instances, however, the extremest degree of atrophy has been noted where the disease has commenced in the lower extremities.

The deformity produced by the wasting muscle is sometimes further increased--more frequently in the earlier stages--by a painful swelling of the joints, first mentioned by Remak, called by him neuro-paralytic inflammation, and referred to the sympathetic. This may affect the small (phalangeal) as well as the larger joints (shoulder and elbow).

Cases apparently beginning in the face are reported, when the distorted expression resulting is very characteristic.

Aran first, and Roberts afterward, divided cases of the disease into two groups, the partial and general. In the former are included those involving the extremities only; in the latter become involved, sooner or later, the muscles of the trunk, neck, face, mouth, pharynx (muscles of deglutition), thorax (muscles of respiration), and even of the abdomen. Even the tongue is reported as undergoing atrophy.

General wasting palsy, as was early observed by Roberts, is unquestionably a rare disease, and in no case have all the muscles of the body been found implicated in one individual, and a few seem altogether exempted. Such are the muscles of mastication and of the eyeball, including the levator palpebræ.

A second muscular symptom, more or less distinctive, is fibrillar contraction. This consists in a wave-like contraction running along small bundles of muscular fasciculi. The contractions occur spontaneously or are excited by any slight stimulus, as a breath of air or a dash of water, or by tapping the patient, or passing a galvanic current through the parts, and at any stage of the disease, except that they do not occur in muscles wholly destroyed. Sometimes they can be felt by the patient. At other times he is wholly ignorant of them. They are not invariably present, and often they have been observed in muscles atrophied from other causes. They possess, however, a certain amount of diagnostic value, especially when spontaneous.

More rare, and less destructive, are cramps, twitches, and clonic contractions of groups of affected muscles. These, when present, are sometimes exceedingly painful.

Coincident with the wasting of muscles is their loss of function. The power of abducting and adducting the fingers gradually disappears, so also that of flexion and extension, and everywhere the loss of function goes pari passu with the atrophy. As Roberts graphically puts it, "The tailor discovers that he cannot hold his needle; the shoemaker wonders {551} he cannot thrust his awl; the mason finds his hammer, formerly a plaything in his hand, now too heavy for his utmost strength; the gentleman feels an awkwardness in handling his pen, in pulling out his pocket handkerchief, or in putting on his hat. One man discovered his ailment in thrusting on a horse's collar; another, a sportsman, in bringing the fowling-piece to his shoulder."

Along with the atrophy of muscle and loss of power comes a gradually diminishing response to electrical stimulus. Direct muscular faradization fails first to excite contraction, and sometimes fails completely even before voluntary mobility is lost. Indirect muscular faradization continues longer to excite contraction, but it also finally fails. Response to the constant current continues still longer, but it also finally fails to elicit contractions, stronger and stronger currents being required, until finally all fail. The galvanic excitability of nerve-trunks is maintained for quite a long time, but finally also disappears. Some irregularities present themselves in this respect.

A singular electrical reaction, first described by Remak, and said by him to be of frequent occurrence in muscular atrophy, was named by him deplegic contraction. He describes it as follows: When the cathode or negative pole is put below the fifth cervical vertebra, contractions can be produced in the atrophied muscles of the arm when the anode or positive pole is placed in an irritable zone, which extends from the first to the fifth cervical vertebra, or, still better, in the carotid fossa or the triangle between the lower jaw and the external ear. The contractions always take place on the side opposite to that at which the anode is placed, while when the electrodes are placed on the median line they occur on both sides, although when the current is very weak they are limited to the muscles most seriously involved. Meyer, Drissen, and Erb confirmed Remak's statement, while Fieber, Benedikt, and Eulenburg failed to do so. Remak interprets these contractions as reflected from the superior cervical ganglion of the sympathetic. He bases this view upon the fact that the patient perceived a sensation behind the ball of the eye when the current was closed. Eulenburg, on the other hand, regards them as genuine reflex contractions, independent of the sympathetic, and caused either by excessive irritability of the central reflex apparatus or by an abnormal excitability of the muscles themselves.

Sensibility is, in many cases, unchanged, the tactile sense being as delicate as ever, and pain, except accompanying the cramps above described, is absent. At times, however, the atrophy is preceded by paroxysms, which may or may not accompany the clonic contractions referred to. It is sometimes in the course of nerve-trunks, but as often diffuse, as though the muscles themselves were its seat. At other times it is variously described as a soreness, an aching, or a rheumatic pain. Accompanying advanced degrees of the atrophy, however, there is very rarely--in 3 out of 105 cases, according to Roberts--a slight diminution of sensibility, especially in the ends of the fingers, while the faradic sensibility may be similarly diminished.

Modified sensations, as those of cold, numbness, and formication, may be experienced, and reflex excitability may be increased, while the knee-jerk is said to be absent. Unusual sensitiveness to cold is sometimes noted, and a loss of muscular power under its influence, which is again restored by artificial warmth.

{552} Among more inconstant symptoms, denominated vaso-motor, are, in the early stages, fever and slight elevation in local temperature from 2° to 3° C. Fever is less frequently observed toward the termination of the disease, and at this stage a fall of local temperature, as much as 4° C., has been noted. In the same category of vaso-motor symptoms are classed the skin contractions already referred to, hyperidrosis or excessive sweating, and certain very rare oculo-pupillary symptoms, consisting mainly of contraction of the pupil and slow reaction, but including also, in a case reported by Voisin, flattening of the cornea on both sides and defective sight.

COMPLICATIONS.--Progressive muscular atrophy is not infrequently associated with amyotrophic antero-lateral sclerosis and with labio-glossal or progressive bulbar paralysis. Both affections may result as an extension of the disease from the anterior cornua of gray matter, the former into the antero-lateral columns, the latter into the medulla oblongata, or the affection may be primary in either of these two situations, and extend thence into the anterior cornua of gray matter.

When there is also lateral sclerosis, there is rigidity of the lower limbs in addition to the atrophy of the upper--at first temporary, but afterward permanent. This may extend to the upper also, and the arms become fixed in semipronation and semiflexion.

When there is bulbar paralysis there is difficulty in moving the tongue, in speaking, and in swallowing. The mouth remains open, the lower lip drops, the patient cannot whistle or kiss or blow out a candle; he speaks through his nose. On the other hand, the upper part of the face is natural, the orbicularis palpebrarum muscle and occipito-frontalis acting well. As a consequence, the carrying of the food back into the oesophagus is rendered difficult or impossible; swallowing is imperfectly successful; the food sometimes enters the larynx, and the patient dies of suffocation. The saliva dribbles from the mouth. Later, respiration is embarrassed, and performed principally by the diaphragm; there is difficulty in raising mucus, and if bronchitis supervenes the patient dies of suffocation, because he cannot raise the phlegm. Such was the death of Prosper Lecompte, the historic patient of Cruveilhier.

DIAGNOSIS.--As our knowledge of progressive muscular atrophy increases we realize more and more that there have heretofore been included under this name many cases which must now be relegated to other categories. If we confine the disease, as I think we must, to those cases in which there are degenerative changes in the anterior cornua of the gray matter of the cord, we must endeavor to associate with these lesions a set of symptoms which are sufficiently constant, and exclude all other similar combinations. Such a set of symptoms includes the following: insidious and progressive atrophy of groups of muscles, beginning usually in the hand or shoulder, from which, however, it may extend to others in a diffuse and rarer form of the disease. The atrophy is accompanied by a corresponding loss of power in the affected muscles and partial or complete reaction of degeneration in the same, and by fibrillar twitchings. Along with this, sensibility, the special senses, the reflexes, as a rule, and sphincters always remain normal.

This complex of symptoms is to be distinguished from the so-called {553} juvenile progressive muscular atrophy of Erb, and from pseudo-hypertrophic muscular paralysis. In the first there is also slow, symmetrical, but intermittent and often stationary, wasting and weakness of certain groups of muscles, preferably those encircling the shoulder and upper arm, the pelvis and upper thigh and back--"an atrophy," says Erb, "which is very frequently combined with true or false muscular hypertrophy, with a peculiar toughness of the atrophying muscles, but without fibrillar contraction or any trace of the reaction of degeneration or other lesion in the body, be it of the nervous system, organs of sense, vegetative organs, or external integuments."[27] The average age in the juvenile form is much less, Erb's cases ranging from seven to forty-six, or an average of twenty-six and a half, while in the spinal form, or true progressive muscular atrophy, although the age is reduced by reason of the admixture of other cases than those of true progressive muscular atrophy, the average age is much greater. Of Roberts's cases, all of which seem true cases, the youngest was twenty, while the age of the remaining four was thirty-nine, forty-seven, sixty-seven, and thirty-eight.

[Footnote 27: "Juvenile Form der Progressive Muskelatrophie," _Deutsches Archiv für klinische Medizin_, Bd. xxxiv., 1884, S. 471.]

There are certain symptoms in common in progressive muscular atrophy, as heretofore described, and pseudo-hypertrophic paralysis; and I have already said that Friedreich and others are disposed to consider them one and the same disease; but such is not the case. First of all, while there is wasting of muscle, although obscured in the lower extremities by the fatty infiltration, and while there is loss of power, there are in pseudo-hypertrophic paralysis absolutely no alterations in the spinal cord. Pseudo-hypertrophic paralysis always begins in the lower extremities, while progressive muscular atrophy begins for the most part in the upper. Pseudo-hypertrophic paralysis is a disease of childhood, and strikingly hereditary; and while progressive muscular atrophy in its broadest application is also a disease of childhood and hereditary, it is much less so than pseudo-hypertrophic paralysis; and if, with Erb, we separate the juvenile form from muscular atrophy, progressive muscular atrophy is not a disease of childhood, while heredity is almost entirely removed from it.[28]

[Footnote 28: It cannot but help the reader to get a correct notion of this interesting but still somewhat imperfectly understood disease to be familiar with Erb's formulated conclusions (_loc. cit._, p. 510):

"There is a peculiar form of progressive muscular atrophy which is characterized by a definite location, definite course, definite behavior of affected muscles, and definite alteration in them, but without alterations in the spinal cord--the condition named by me the juvenile form. It begins in youth or childhood.

"This form agrees in its symptomatology--especially in its localization in the upper half of the body, partly also in the lower--entirely with the so-called pseudo-hypertrophy of muscles, only that in the former a decided lipomatosis leading to an increase in volume is wanting; on the other hand, true muscular hypertrophy is not infrequent in both forms of the disease.

"If this juvenile form occurs in the earliest childhood, it may in all its details be identical with pseudo-hypertrophy, except that the lipomatosis is wanting.

"The anatomico-histological alterations of the muscles are exactly the same in the juvenile form as in pseudo-hypertrophy.

"The juvenile form not infrequently occurs in entire groups in one family, producing the so-called hereditary--better named family-muscular--atrophy.

"If this juvenile-hereditary form occurs after puberty, it affects most frequently, although not exclusively, the upper half of the body. If it sets in, on the other hand, in {554} earliest childhood, it affects preferably the lower extremities and the pelvis. Transitional forms, however, occur also in family groups.

"In the latter form, that occurring in earliest life, we have that which Leyden has proposed to designate as hereditary muscular atrophy.

"Thus, hereditary muscular atrophy is in all essential points identical with pseudo-hypertrophy, and is distinguished from it only in the slighter degree of lipomatosis of the muscles.

"All of these forms have probably nothing to do with spinal progressive muscular atrophy; they differ from it in localization and course, anatomical changes and clinical phenomena in the muscles, and alterations in the spinal cord."]

Still another myopathic condition, which in the light of modern knowledge has to be separated from progressive muscular atrophy, is Duchenne's hereditary infantile atrophy. This is characterized by onset at an early age and by its beginning in the facial muscles. Its clinical features are thus described by Charcot[29] and his pupils Marie and Guénon.[30] Although it mostly begins in infancy, it may not come on until adolescence, or even until middle or advanced age; it is often hereditary; the face-muscles are first involved, particularly the orbicularis oris, and there is a peculiar expression of the countenance; whistling is impossible, and the articulation of labials difficult; the eyes cannot be completely closed or the eyebrows raised. Subsequently other muscles become involved, particularly those of the shoulder girdle, except the deltoid, the muscles of the arm, the long supinators of the forearm, and in the lower extremities the muscles of the buttocks, thighs, and of the anterior external aspect of the leg. The muscles of the hands and fingers are spared. Fibrillar tremors are not present, and there is no reaction of degeneration. The distribution of the atrophy is almost identical with that of Erb's form, except that it begins in the face. It is likewise an hereditary or family disease.

[Footnote 29: _Le Progrès médical_, No. 10, 1885.]

[Footnote 30: _Revue de Médecine_, October, 1885.]

PROGNOSIS.--The course of progressive muscular atrophy is never rapid--essentially chronic. Recovery in a well-established case is not to be expected, although it is rare for any one to die of the direct effects of the disease. It is often arrested in its course, and remains at a standstill for years. The wider its distribution and the more numerous the foci of involvement, the more rapid is its course; and when the muscles of deglutition and respiration are involved, and the carrying back of food interfered with, death from asphyxia is liable to be produced by the entrance of food into the larynx or from the accumulation of mucus in what under ordinary circumstances would be a slight catarrh of the respiratory passages.

TREATMENT.--Treatment directed specifically to the cure of the disease is limited. Only where there is reason to believe that syphilis is responsible for it do we find an opportunity to strike at the fons et origo mali by mercurials and iodide of potassium. Yet in Cooke's case, quoted by Roberts,[31] the disease after progressing continuously for five years, during which a variety of modes of treatment was tried, had its further progress stopped by a course of mercury, although no cause of the disease could be assigned.

[Footnote 31: _Op. cit._, p. 1; also Cooke _On Palsy_, Lond., 1822, p. 31; also quoted by Graves in his _Clinical Lectures_, L. lxxxiii.]

In the majority of instances treatment must consist merely in efforts to maintain the general health and strength of the patient and to counteract {555} the obstinate tendency of the spinal disease to produce wasting of the muscles by depressing their nutrition. The former is accomplished by an abundance of nutritious food, fresh air, and out-door life, by gymnastics, chalybeate and other tonics, including arsenic, strychnine, and quinine. The second is attained by electricity, frictions, and massage. Both forms of electricity are useful, the induced current with rapid interruption with a view to counter-irritate and to stimulate the circulation, or by slow interruptions to stimulate individual muscles to contraction, and thus maintain their nutrition. Duchenne recommended the application of currents of moderate intensity, with not too frequent interruptions, and for a few minutes only at a time, so as not to fatigue the fibres undestroyed. He urged particularly the treatment of important muscles like the diaphragm through the phrenic nerves, of the intercostals, and of the deltoids before they were actually invaded by the disease. He relates the case of a man named Bonnard who had lost many of his trunk-muscles, and who was beginning to suffer with dyspnoea, on whom faradization of the phrenic nerves, repeated three or four times a week, was of great service, enabling him to walk considerable distances and to go up stairs without fatigue. Another patient, whose arms were much wasted, was so far restored that at the end of six months he was again able to support his family.

The direct current--galvanism--is useful in advanced stages of the disease, where even the strongest faradic currents fail to produce response. Even where galvanic currents fail to exert contractions the treatment ought to be persevered in for a long time. It may be necessary to use very strong currents at the outset, which may be gradually weakened as contractility returns.

Remak, who especially advocated the use of the continuous current, advised to place the positive pole in front of one mastoid process and the negative pole on the opposite side of the neck near the spinous processes of the vertebræ, not higher than the fifth cervical, by which he produced the contractions already described as diplegic in the fingers and other paralyzed parts.

Galvanization of the sympathetic has been apparently useful in the hands of some--viz. Roberts, Benedikt, M. Meyer, Guthzeit, Erb, Neseman, and others, while the latter reports a case of complete cure by this treatment. Eulenburg tells us, however, that a relapse is said to have occurred in this case; also that neither he nor Rosenthal have had any results from it.

Massage is equally important, and should be used at the same time with electricity, but at a different time of day. Eulenburg refers to a case which was said to have brought the disease to a standstill. There can be no doubt of the value of the measure as an adjuvant to treatment.

In families in which an hereditary tendency exists prophylactic treatment should be used. It should include hygienic measures of the kind already referred to, and the avoidance of undue fatigue and exposure; and in the selection of an occupation these matters should be kept in view.

On the supposition that the disease is a purely local one, gymnastics, involving the exercise of the groups of muscles prone to attack, would {556} be indicated, but assume less importance from our standpoint that it is a spinal disease. At the same time, the patient should have the benefit of any existing uncertainty in the pathogeny of the affection; and as gymnastics are eminently calculated to improve the general health, and thus indirectly to avert the disease, their use is indicated on these grounds.

{557}

PSEUDO-HYPERTROPHIC PARALYSIS.

BY MARY PUTNAM JACOBI, M.D.

SYNONYMS.--Hypertrophic paraplegia of infancy (Duchenne); Myo-sclerosic paralysis (Duchenne); Progressive muscular sclerosis (Jaccoud); Atrophia musculorum lipomatosa (Seidel); Lipomatous myo-atrophy (Gowers); Muscular hypertrophy (Kaulich, Griesinger); Lipomatosis musculorum luxurians progressiva (Heller); Myopachynsis lipomatosa (Uhde); Pseudo-hypertrophic paralysis (Ross); Pseudo-hypertrophy of muscles (Friedreich).

DEFINITION.--Pseudo-hypertrophic paralysis is a rare and predominantly infantile disease, characterized by a considerable increase in the volume of some or all the muscles of the lower extremities, associated with progressive diminution in their functional energy, and accompanied or followed by paresis and atrophy of the muscles of the trunk and upper limbs. Many of the hypertrophied muscles subsequently atrophy; many of the muscles in which atrophy is the most conspicuous lesion pass through a preliminary period of hypertrophy. The proximate cause of these alterations is a profound disturbance in the nutrition of the muscles, attended by great increase of their connective tissue, by wasting of the contractile substance, and by the ultimate replacement of this by fat.

HISTORY.--The honors of the discovery of this remarkable disease may be divided between Duchenne, Meryon, and Griesinger. In 1852[1] the English physician published a series of six cases, four belonging to one family, two to another; but these were described by him under the name of progressive muscular atrophy; and it was left to Duchenne, who in 1861[2] published as a new disease the first case observed by himself, to demonstrate the identity of Meryon's cases with his own.[3] In 1868, Duchenne had collected twelve additional cases, and published an extensive monograph on the subject.[4] But in 1865, Griesinger[5] had excised a portion of muscle from a patient suffering with the disease, and made the first histological examination of its structure. On this account several German writers habitually refer to Griesinger as the earliest authority on the subject. Before Meryon, Partridge in 1847,[6] and Sir Charles Bell in 1830,[7] had described cases of pseudo-hypertrophic paralysis, but without recognizing their separate morbid entity. Bell's case is the following: {558} "A boy at eight years of age began to experience difficulty in rising from a chair. The disease gradually progressed, till at eighteen he had to twist and jerk his body about to get upright. The muscles of the lower extremities, hips, and abdomen were debilitated and wasted. The extensor quadriceps femoris on both sides wasted, but the vasti externi had not suffered as much; a firm body, remarkably prominent, just above the knee-joint, marked the position of the vastus externus. No defect of sensibility or affection of the sphincters. The upper part of the body, shoulders, and arms were strong."[8]

[Footnote 1: _Lond. Med. Gaz._]

[Footnote 2: _De l'Électrisation localisée_.]

[Footnote 3: Duchenne at first doubted this identity.]

[Footnote 4: _Archives générales_, 1868.]

[Footnote 5: _Archiv der Heilkunde_.]

[Footnote 6: _Lond. Med. Gaz._, 1847.]

[Footnote 7: _Nervous System_, 2d ed., 1830, p. 163.]

[Footnote 8: _Loc. cit._ This case is quoted in an appendix to Gowers's monograph.]

Autopsies.--The first was made by Meryon: the first which included microscopic examination of the spinal cord was by Cohnheim on a patient of Eulenburg's.[9] Since then autopsies have been made in 12 genuine cases, and in 2 others frequently, though erroneously, ranked with them.[10]

[Footnote 9: _Vhdlg. der Bul. Med. Ges._, 1866, Heft 2, p. 191, quoted by Eulenburg in _Ziemssen's Handbuch_, Bd. xii. 2.]

[Footnote 10: Cases of Barth and Müller.]

Of cases without autopsies a collection of 80 was made by Friedreich in the monograph on pseudo-hypertrophy which accompanies his longer monograph on progressive muscular atrophy.[11] Mobius has increased this list to 94;[12] Gowers describes 24 cases,[13] and refers in an appendix to 20 more--18 observed by Adams, 2 by Clifford Albutt.[14] Hammond in the sixth edition of his treatise on nervous diseases, quotes 17 American cases, of which 6 were observed by himself.[15] Gowers estimated that in 1879 about 220 cases had been reported, divided up among a much smaller number of families.

[Footnote 11: _Ueber Progressiv Muskel Atrophie_.]

[Footnote 12: "Ueber Hereditare Nerven Krankheiten," _Volkmann's Samml._, 171.]

[Footnote 13: _Clinical Lecture on Pseudo-hypertrophic Paralysis_, Lond., 1879.]

[Footnote 14: Among Mobius's cases is that related by Pick in the _Deutsches Archiv f. klin. Med._, Bd. vi., and really a case of progressive muscular atrophy in an adult complicated by lipomatosis in the calf-muscles. Of the other cases, 6 are quoted from the Swedish, 6 are hitherto unpublished, and have been collected by the author from several clinics. There remain cases by Davidsohn, _Glasgow Med. Journ._, 1872 (3 cases); Berger, _Schles. Gesellsch._, 1875; Uhde, _Arch. f. klin. Chirurg._, 1873, Bd. xvi.; Huber, _Deutsches Arch. für klin. Med._, 1874; Brieger, _ibid._, 1878, Bd. xxii.; Leyden, _Klinik der Ruckenmark. Krank._, Bd. ii. S. 529; Schlesinger, _Wien. Med. Presse_, 1873.

Many other cases have been published since, but without contributing any special information on the disease. Of importance, however, are--Cornil, accompanied by autopsy, _Bull. Soc. Méd. des Hôp._, 1880; Donkin, followed by recovery, _Brit. Med. Journ._, 1882, i.; Albutt, _Med. Times and Gaz._, 1882; Goodridge, _Brain_, 1882; Barthélemy, _France méd._, 1880; Suckling, _Med. Times and Gaz._, 1885; Dowse and Crocker, _Lancet_, 1881.]

[Footnote 15: These are reported by S. G. Webber, _Boston Medical and Surg. Journ._, Nov. 17, 1870; Wm. Pepper, _Philada. Med. Times_, 1871; S. Weir Mitchell, _Photographic Review_, 1871; C. H. Drake, _Philada. Med. Times_, 1874; C. T. Poore, _New York Med. Journal_, 1875; Steele and Kingsley of Missouri (4 cases), _Philada. Med. Times_, Oct., 1875; George S. Gerhardt (2 cases), _Alienist and Neurologist_, Jan., 1880.

I have had an opportunity of observing 3 cases of the disease--1 at the Mount Sinai Hospital; 2, brothers, in a private family.]

The material at present on hand is therefore sufficient, if not to solve the problems of the disease, at least to make out a tolerably complete clinical history.

SYMPTOMS.--The early appearance of the morbid symptoms is the first striking peculiarity of the disease. Out of 88 cases whose records I have analyzed, 35 must be considered congenital, since some degree of paresis was observed from the time the child first began to walk;[16] and the effort {559} at walking was unusually late, being deferred till two, three, or even four years of age. In 21 other cases the first symptoms of the disease declared themselves between the ages of three and six[17]--at the age of seven 8 other cases began;[18] between nine and ten, 7 cases;[19] between ten and sixteen were 8 cases;[20] finally, in 7 cases, of which 2 are more than doubtful (cases Barth and Müller), the disease seems to have begun in adult life.[21] Thus, 57 cases, or rather more than two-thirds of the whole number, began before the age of six.

[Footnote 16: These cases are the following: Meryon, _Lond. Med. Gaz._, 1852 (5 cases); Partridge, _ibid._, 1847; Duchenne, _Électris. local._, 1861; Kaulich, _Prager Vierteljahr._, 1862, quoted by Friedreich; Spielmann, _Gaz. méd. de Strasbourg_, 1862, quoted by Friedreich; Duchenne fils, _Archives gén._, 1864 ("De la Paralysie atrophique graisseuse"); Griesinger, _Archiv der Heilkunde_, 1864; Sigmund, _Deutsches Archiv für klin. Med._, Bd. i. Heft 6; Wernich, _ibid._, Bd. ii. Heft 2, 1866; Benedikt, _Elektrotherapie_, Wien, 1868; Balthazar Foster, _Lancet_, 1869; Barth, _Archiv der Heilkunde_, xii. 2, 1871; Chrostek, _Oesterreich Zeitschrift für prakt. Heilkunde_, No. 38, 1871, quoted by Friedreich; Pekelharing, _Arch. Virch._, 1882, Bd. lxxxix., quoted by Friedreich; Knoll, _Wien. Medizin Jahrbuch._, 1872; Friedreich, _Pseudo-hypertroph. der Musc._, 1878, p. 291; Duchenne, _Archives gén._, 1868 (7 cases); Hammond, _Treatise Nerv. Dis._; Gowers, _loc. cit._ (5 cases); Ross, _Treatise Nerv. Dis._, 2, 204.]

[Footnote 17: Cases by Eulenburg, _Allgemeine Med. Central Zeitung_, Berlin, 1863, quoted by Friedreich; Rinecker, _Verhand. du Phys. Med. Gesellsch. zu Wurzburg_, 1860, quoted by Friedreich; Heller, _Deutsches Archiv f. klin. Med._, Bd. i. H. 6 (2 cases); Wernich, _ibid._, Bd. ii., 1866; Lutz, _ibid._, Bd. iii., 1867; Benedikt, _loc. cit._ (5th and 6th cases); Russel, _Med. Times and Gaz._, 1869 (3d case); Duchenne, _loc. cit._ (2d, 3d, 6th, 12th, 13th cases); Hammond, _loc. cit._; Gowers, _loc. cit._ (6 cases).]

[Footnote 18: Cases by Eulenburg and Cohnheim, _Beitr. klin. Woch._, 1865; Seidel, _Atrophia Musculorum Lipomatosa_, 1867; Heller, _loc. cit._ (2d case); Wagner, _Berl. klin. Woch._, 1866 (8 cases); Benedikt, _loc. cit._ (1st case); Duchenne, _loc. cit._ (9th case); Gowers, _loc. cit._ (7th case).]

[Footnote 19: Seidel, _loc. cit._ (1st case); Coste and Gioja, _Schmidt's Jahrb._, Bd. xxiv. S. 176; Spielmann, _Gaz. méd. de Strasbourg_, 1862; Boquette, _Inaug. Dissert._, Berlin, 1868; Russel, _loc. cit._ (2d case); Rakowac, _Wien. Mediz. Wochen._, 1872; Brieger, _Deutsches Archiv f. klin. Med._, Bd. xxii., 1878; Pepper, _Philada. Med. Times_, 1871.]

[Footnote 20: Lutz, _loc. cit._ (2d case); Ross, _loc. cit._, p. 190 (observed when adult); Hoffmann, _Inaug. Dissert._, Berlin, 1867; Russel, _loc. cit._ (1st case); Gowers, _loc. cit._ (18th and 20th cases).]

[Footnote 21: Benedikt, _loc. cit._ (2d and 3d cases); Dyce Brown, _Edin. Med. Journ._, 1870; Eulenburg, _Archiv Virch._, Bd. xlix., 1870; Martini, _Centralblatt für Med. Wissensch._, No. 41, 1871; Barth, _Archiv der Heilkunde_, xii. 2, 1871; Müller, _Beit. zur path. Ruckenmarkes_, 1871.]

The symptoms are of three kinds: 1st, those dependent on alterations in the function of the affected muscles; 2d, changes in the appearance, consistency, and electrical reaction of these same muscles; 3d, deformities resulting from their structural alteration.

The first muscles invaded are invariably the gastrocnemii,[22] and therefore uncertainty of gait is the first symptom observed. The child is usually backward in learning how to walk, even when two, three, or four years intervene between this acquisition and the first decided appearance of the disease. In the unquestionably congenital disease the act of walking is always imperfectly performed, and the original imperfection gradually deepens into a noticeable uncertainty of gait, and finally into real paresis. It is noticed that the child falls very frequently--at first only when running, afterward even while standing. He then begins to experience difficulty in going up stairs: pulls himself up by the {560} bannisters, and usually drags one leg completely. After a while it becomes quite impossible for him to go up stairs except on his hands and knees.

[Footnote 22: Billroth relates an altogether exceptional case of a limited pseudo-hypertrophy with lipomatous degeneration, localized in the hamstring and adductor muscles of one thigh, in a girl seventeen years old. The only generalized lesion was an immense development of subcutaneous fat (_Archiv für klin. Chir._, Bd. xiii.).

Dyce Brown (_Edin. Med. Journal_, 1870) relates a case, also in an adult of twenty-six years, where hypertrophy of the thigh-muscles is said to have preceded by three weeks that of the calves.]

These symptoms all point to failure of power in the gastrocnemii muscles, whose function it is to raise the heel from the ground in running, to steady the heel by their tension during the act of standing, and to raise the foot with considerable force during the act of going up stairs. In descending a staircase or any inclined plane great tension is required of these same muscles, and this act should therefore be even more difficult than that of ascension. But it does not seem to have been as carefully studied.

Attention is not often directed to the infirmity at this early stage, especially if the child be very young, since the apparently excellent development of the legs satisfies the parents that nothing serious can be the matter, and the falling is explained by childish awkwardness. Not infrequently, indeed, this is really due to a rachitis which has preceded the degenerative lesion, and at the early stage of the latter a diagnosis from the less severe disease is always required, and is sometimes difficult to make.

The following test may be applied in doubtful cases: The child (if old enough) is requested while standing to rise on the tips of his toes. This act necessitates a powerful effort on the part of the sural muscles, and of this, even at an early stage of degeneration, they are generally incapable.

Functional weakness may precede for several years all visible alteration of the muscles; the child may not learn to walk at all until two or even three years of age; then walks badly until five or six, when, for the first time, the calves begin to enlarge. More often the paresis precedes the hypertrophy by only a few months or weeks, or the symptoms occur simultaneously. A certain amount of hypertrophy will be overlooked; but when the calves enlarge sufficiently to render the child's stockings too tight, attention is forcibly called to the change. The enlargement is more marked at the upper part of the calf, so that the symmetry of the leg is deranged by it. Often, however, the impression of vigor conveyed by the appearance of the child's legs is with difficulty dispelled by the discovery of their functional weakness.

Eulenburg[23] affirms that the consistency of the muscle is soft and doughy, recalling, when grasped in the hand, a lipomatous tumor. This description, however, does not apply to the early stage of the disease; for then the hypertrophied muscles feel extremely hard to the touch; there is even a stony hardness (Duchenne fils); somewhat later, the hypertrophy continuing, these muscles "seem to make hernial protrusions through the skin" (Duchenne). This appearance is most marked when the subcutaneous fat is atrophied; when, as happens especially in the adult cases,[24] the diseased muscles are covered by a thick layer of subcutaneous fat, their protrusion is concealed. A rapid exchange of the hardness characterizing the first stage of the lesions for a lipomatous softening is of bad omen, as indicating a more rapid and irresistible march in the disease (Mobius).

[Footnote 23: _Ziemssen's Handbuch_, Bd. xii.]

[Footnote 24: See case by Billroth, quoted p. 853, note.]

At this early stage the electrical reactions of the enlarging muscles are all intact. Disturbances of sensibility, however, are not uncommon. Especially frequent are pains in the back and loins and stabbing pains in the lower limbs. These pains sometimes follow the track of the {561} crural or sciatic nerves; at other times they appear in the joints; sometimes are limited to the affected muscles. The pains are diminished by repose and a recumbent position, but are greatly aggravated by movement. Paræsthesias, or a feeling of cold and formication, are also observed--never anæsthesia. Seidel[25] has found the cutaneous sensibility to be intact, as also the sense of space and pressure. The temperature sensibility has not been tested. The temperature of the affected part is, according to Eulenburg, often lowered several degrees. This statement probably refers to the advanced degree of degeneration. At an earlier stage Ord[26] found the temperature of the calves to be increased.

[Footnote 25: _Loc. cit._, p. 32.]

[Footnote 26: _Med.-Chir. Trans._, 1874, 1877.]

Reflex excitability is maintained, not only in this, but in the second stage of the disease, except in the patellar tendon, where it is abolished after the quadriceps extensor has been invaded. This fact may be of importance in diagnosticating paresis depending on incipient pseudo-hypertrophy from that which would be caused by a mild anterior poliomyelitis.

No symptoms of the third kind (deformity) appear in the first period of the disease. The second is ushered in either by the first perceptible degree of hypertrophy in the calves (Duchenne) or by increase of the hypertrophy, which may have already begun during the first period of paresis, and by extension of this to other muscles.

This extension of the lesion is indicated by further derangement in the functions of station and locomotion. To steady himself the child instinctively widens his base of support by placing the feet far apart, and thus straddles while walking in a manner that is highly characteristic. A second peculiarity is an oscillating movement of the trunk from side to side. The trunk is carried over to the side of the foot planted on the ground, the so-called active limb, and while the passive limb is being swung forward. A third peculiarity of attitude, already exhibited in station, but exaggerated by the act of walking, is lordosis. The lumbar portion of the spine, with the abdomen, is carried forward; the shoulders are carried backward, so that a plumb-line dropped from them falls behind the sacrum. Thus, the walk of the patient becomes highly characteristic--the feet planted so far apart; the lumbar portion of the trunk projecting forward; the body oscillating at each step from side to side.

At this stage the act of rising from a sitting or recumbent position becomes more difficult than walking. If near a support, the child always tries to draw himself up by his arms; if a fixed support be lacking, he first gets on his hands and knees, and then, grasping each thigh alternately with one hand, is enabled to get first one foot and then the other on the floor. He then seizes the thighs by successive grasps, each higher than the other, pressing back the flexed hip- and knee-joint as he does so. By this method of apparently climbing up his own thighs the patient is finally enabled to extend his body and arrive at an upright position.

This attitude of the hands, on the knees, and subsequently on the thighs, during the act of rising, is pathognomonic of pseudo-hypertrophy, for it is observed in no other disease.