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.