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Autosomal recessive distal muscular dystrophy A comparative study with distal myopathy with rimmed vacoule formation.

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Autosomal Recessive Distal Muscular
Dystrophy: A Comparative Study
with Distal Myopathy with Rrmmed
Vacuole Formation
Ikuya Nonaka, MD," Nobuhiko Sunohara, MD,* Eijiro Satoyoshi, MD," Kenjiro Terasawa, MD,"
and Kyozo Yonemoto, MD'F
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To clarify the clinical and morphological characteristics of distal muscular dystrophy, clinical and pathological material from 4 affected persons was compared with similar studies in 4 patients with distal myopathy with rimmed vacuole
formation. Although these two forms of autosomal recessive distal myopathy with onset in young adulthood were
highly similar in their clinical symptoms, histochemical and electron microscopic findings of muscles subjected to
biopsy were quite different. The muscle abnormalities in distal muscular dystrophy were almost the same as those in
Duchenne muscular dystrophy, showing massive fiber necrosis followed by active fiber regeneration. In contrast, distal
myopathy with rimmed vacuole formation showed a progressive muscle fiber atrophy and loss, rimmed vacuoles in the
sarcoplasm, and no apparent fiber necrosis or regeneration.
Nonaka I, Sunohara N, Satoyoshi E, Terasawa K, Yonemoto K: Autosomal recessive distal
muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation.
Ann Neurol 17:51-59, 1985
A myopathy with a predilection for the distal extremities, distal myopathy is prevalent in Sweden and
is transmitted as an autosomal dominant trait [ l , 7, 10,
437. In affected patients muscle weakness usually appears after the age of 40 years. Histological examination of muscle shows myopathic changes and type 1
fiber atrophy, similar to the changes in myotonic dystrophy [lo]. Non-Swedish forms of distal myopathy
are probably heterogeneous and have various clinical
and morphological features; the time of onset of the
disease varies from infancy [2, 12, 18, 19, 401 to late
adulthood 12 11, and muscle biopsies show myopathic
changes, such as active fiber necrosis [8, 12, 19-21,
24, 35, 371, vacuolar formation {8, 13, 20, 21, 24, 28,
29, 31, 351, and an abnormal distribution of muscle
fiber types, including hypotrophic type 1 fibers with
type 1 fiber predominance 12, 401. Among nonSwedish patients two forms of distal myopathy with
common clinical and pathological characteristics have
recently been reported. The first 125-271 is characterized by (1) transmission as an autosomal recessive trait;
(2) onset usually in young adulthood; (3) early and
preferential involvement of the gastrocnemius muscles; (4) highly elevated serum creatine kinase (CK)
levels; (5) relatively rapid progression leading to a
nonambulant state usually within ten years of onset;
and (6) dystrophic muscle abnormalities mimicking
those of Duchenne muscular dystrophy (DMD). Because of the well-established autosomal recessive inheritance and characteristic clinical features, this disorder has been regarded as a clinical entity by Miyoshi
127) who proposed the name autosomal recessive distal
muscular dystrophy (DisMD). Two brothers 1161 and 3
sporadic cases 1241 with similar clinical and pathological features have been described recently; therefore, DisMD is presumed to be fairly common.
The clinical features of the second form E14, 17, 22,
32, 38, 391 closely resemble those of DisMD, except
for severe weakness and atrophy of peroneal muscles
and only slightly elevated CK levels. The muscle abnormalities are characterized by muscle fiber atrophy
with rimmed vacuole formation in the sarcoplasm. The
disease has been tentatively labeled familial distal myopathy with rimmed vacuole formation (DMRV) [32}. To
determine the differences in the pathophysiological
mechanisms of muscle fiber degeneration and to attempt to confirm the clinical specificity in the described two forms of distal myopathy, a comparative
From the *National Center for Nervous, Mental and Muscular Disorders, Kodaira, Tokyo 187, Japan, and the tDepartmenr of Orthopedics, Jikeikai University Medical School, Tokyo 105,Japan.
Received Jan 4 , 1984, and in revised form May 4. Accepted for
publication May 6, 1984.
Address reprint requests to Dr Nonaka.
51
Deep tendon reflexes were markedly diminished or absent in
affected muscles. There were no muscle fasciculations.
CK levels were markedly elevated, as shown in Table 1.
Lactic dehydrogenase, serum glutamic-oxaloacetic transaminase and glutamic-pyruvic transaminase, and aldolase levels
were also abnormally high. In all patients electromyography
showed a myopathic pattern with no spontaneous discharges.
DMRV Group (Patients 5 throagh 8)
Fig I . A 29-year-old man with distal muscular dystrophy (Patient l ) who had marked muscle weakness and atrophy in the
lower legs. Note the markedly decreased muscle bulk in the gastrocnemius and the relatively well-presemed thigh musclef.
The clinical and pathological features of Patients 5 through 7
have been described previously [32). A11 patients became
aware of gait disturbance at the age of about 20 years with an
initial symptom of foot drop or difficulty in standing on tiptoes, indicating the early preferential involvement of the
lower legs. The disease progressed rapidly, later spreading to
the thighs and arms. Mild weakness in the sternocleidomastoid muscles developed in the advanced stage (Patients 5 , 7,
and 8); the facial muscles were spared. O n physical examination the peroneal muscles were found to be the most severely involved; patients could not stand on their toes or
heels and showed marked weakness on dorsiflexion of ankles. The gastrocnemius muscles were less severely affected.
Deep tendon reflexes were diminished or absent in the affected muscles.
Serum CK levels were slightly elevated, ranging from 104
to 531 mU/ml (normal, less than 110 mU/ml). Serum aldolase, serum glutamic-oxaloacetic transaminase and glutamicpyruvic transaminase, and lactic dehydrogenase levels were
within normal limits except in Patient 6 , who had mildly
elevated enzyme activities. Electromyography showed a myopathic pattern in all patients that was associated with some
spontaneous discharges in the form of positive sharp waves
and fibrillation voltages (Patients 5 and 8).
Materials and Methods
histochemical and electron microscopic study was undertaken on muscle biopsy specimens. In addition, the
results were compared with those in DMD.
Clinical Observations
DisMD Group (Patients 1 through 4)
None of the patients with DisMD had a family history of
distal myopathy, although the parents of Patient 4 were
cousins. All patients became aware of difficulty in climbing
stairs or running, and developed atrophy of the calf muscles
between 14 and 24 years of age (average, 18.5 years). The
disease progressed rapidly in Patient 2; three years after the
onset of disease, she walked alone but could not climb stairs
without assistance. In the remaining 3 patients symptoms
progressed steadily but at a slower rate.
O n physical examination all patients had conspicuous m u cle atrophy and weakness in the calves, especially in the
gastrocnemius muscles (Fig 1). Because of mild proximal
muscle weakness, patients arose from the sitting position
with Gowers’s maneuver. In Patients 3 and 4, the left leg was
less severely affected than the right. There was mild muscle
weakness in the hands and arms in Patients 1 and 2 but none
in Patients 3 and 4 . Neck and facial muscles were spared.
52 Annals of Neurology Vol 17 No 1 January 1985
The muscle biopsy specimens were frozen in isopentane
cooled by liquid nitrogen. Serial frozen sections were stained
with H&E, modified Gomori trichrome, and a battery of
histochemical methods [9]. For morphometric evaluation the
muscle fibers were classified into type 1, 2A, 2B, and 2C
fibers in adenosinetriphosphatase- (ATPase) stained sections
[9] and their diameters were measured with a Kontron
MOP2 semiautomatic image analyzer.
For electron microscopical examination small pieces of the
biopsy specimens were fixed in cacodylate-buffered 2% glutaraldehyde solution for two hours. After rinsing in the same
buffer solution, they were postfixed for four hours in symcollidine-buffered osmium tetroxide containing lanthanum
nitrate. In addition to routine electron microscopical examination, the population of satellite cells was determined in
200 cross-sectioned muscle fibers at a final magnification of
X 3,000.
Results
Muscle Histochemistry in DisM D
In Patients 1 and 2 , the gastrocnemius muscle specimens studied were almost totally replaced by fibrous
and adipose tissue. A few small-caliber fibers were embedded in dense connective tissue. Although the gas-
Table I . Clinical Summary
Condition
Distal muscular
dystrophy
Distal myopathy
with rimmed
vacuole formation
Patient No.,
Age (yr),
Sex
Age at
Onset
(yr)
Predominantly
Affected
Muscle
CK
(mU/mla
Motor Nerve
Conduction
Velocity ( d s )
I . , 29, M
2., 17, F
3., 28, F
4., 21, Mb
5., 25, F'
6., 27, M'
7., 27, FC
8., 29, F
24
14
20
Gastrocnemius
Gastrocnemius
Gastrocnemius
Gastrocnemius
Tibialis anterior
Tibialis anterior
Tibialis anterior
Tibialis anterior
4,510
8,000
10,620
4,000
224
531
104
122
57.0 (tibial)
5 1.6 (peroneal)
46.5 (peroneal)
50.6 (tibial)
61.5 (median)
51.8 (median)
65.0 (median)
68.0 (median)
16
22
24
20
26
"Normal, less than 110 mU/ml
bConsanguinity
'Positive family history.
CK
=
serum creatine kinase.
trocnemius muscle in Patient 4 was relatively well preserved, it showed advanced myopathic changes when
compared with the proximal portion of the rectus
femoris. Even in less affected proximal rectus femoris
(Patients 1, 3, and 4 ) and biceps brachii (Patient 2)
muscles, there was a marked variation in fiber size, with
Fig 2. Minute structure of muscle in Patient 2 with distal muscular dystrophy. Whereas the gastrocnemius muscle is almost totally replaced by connective and adipose tissue, the less severely affected proximal muscle of the biceps brachii shows moderate
variability offiber size and numerous necroticfibers with occasionalphagocytosis (asterish). (H&E; X 300.)
a number of necrotic fibers throughout the sections
that were occasionally invaded by acid phosphatasepositive macrophages (Fig 2). Regenerating fibers, with
basophilic cytoplasm, vesicular nuclei, and staining for
alkaline phosphatase, were increased in number. None
of the fibers had rimmed vacuoles. Hypercontracted
(opaque) fibers were scattered throughout, most of
which were stained by glyoxal-bis(2-hydroxyanil),demonstrating ionic calcium. O n ATPase staining both
type 1 and 2 fibers were seen to be distributed in a
normal mosaic pattern, although undifferentiated type
2C fibers showed an increase in number (Fig 3 ; Table
2). In the gastrocnemius muscle in Patient 4, type 1
Nonaka et al: Autosomal Recessive Distal M D
53
F i g 3. Histochemical study of rectus femoris muscle in Patient 1
with distal muscular dystrophy. In addition to well-differentiated type 1 (I), 2A (A), and 28 (Blfibers in a normal mosaic pattern, numerous undzJferentiated type 2C ( C )fibers are
scattered throughout the section, rejecting an active regenerative
process. (a, H 6 E ; 6, routine ATPase; c, ATPase with preincubation at pH 4.6; d, the same as cat pH 4.2; a-d, x 120.)
Table 2. Fiber Tybe Distribution and Fiber Diameter
Condition
Distal muscular
dystrophy
Examined
Muscles
1
RF
GC
BB
GC
308
. . .a
562
RF
639
NE
519
568
490
34 3
320
435
396
484
2
3
GC
4
Distal myopathy
with rimmed vacuole
formation
No. of
Fibers
Examined
Patient
No.
5
6
7
8
RF
GC
VM
VM
TA
BB
BB
TA
Fiber Type Distribution
Mean Fiber Diameter (p)
1
2A
2B
2c
2A
2B
2C
19.5%
15.9%
46.1%
18.59% 44.3
62.0
47.9
35.1
24.0
13.2
32.9
29.9
40.9
31.6
31.8
29.2
48.9
27.9
1.1
22.1
64.6
64.9
84.9
54.9
23.3
11.6
81.2
47.5
69.7
65.3
27.5
57.9
28.9
41.2
9.0
36.4
22.5
20.7
38.6
32.2
32.8
0
15.0
47.2
9.8
0.9
56.3
63.4
38.2
52.1
46.8
32.9
47.1
48.4
51.6 45.9
15.6 . . .
20.5 . . .
58.4 59.4
61.6 62.7
44.8 62.0
43.6 41.3
25.9 22.6
45.5
42.9
15.9
60.7
28.0
18.8
41.2
23.5
1
a
. I .
0
15.2
0.9
8.3
33.6
1.9
6.9
5.7
0.3
8.0
"Mostly fibrous and adipose tissue.
RF
=
rectus fernoris; GC = gastrocnemius; BB = biceps brachii; VM = vastus medialis; TA = tibialis anterior; NE = nor examined.
54 Annals of Neurology Vol 17 No 1 January 1985
Fig 4. Representative muscle structure in Patient 8 with distal
myopathy with rimmed vacuole formution. There is marked variability in musclefiber size, with mild endomysialfibrosis.
Numerous vacuoles rimmed by granular materials (rimmed
vacuoles) (arrowheads)are present in relatively small-caliber
fibers. (Modzjied Gomori trichrome stain; x 2JO.)
fibers were hypertrophic and type 2 fibers tended to
be atrophic and occasionally clustered in small groups.
Muscle Histocbemisty in D M R V
The histological and histochemical findings in Patients
5 through 7 have been described in a previous report
C321. In Patients 6 and 8, both proximal and distal
muscles were subjected to biopsy at the same time,
and the findings confirmed the preferential involvement of distal muscles.
In all patients there was marked variation in fiber
size. Although small-caliber fibers tended to aggregate
in small groups, there was no grouped atrophy, as is
typical in a neuropathic process. Except for Patient 6,
who had one necrotic fiber with phagocytosis, the muscles showed no apparent fiber necrosis. Regenerating
fibers characterized by basophilic cytoplasm, vesicular
nuclei, and prominent nucleoli were not recognizable.
There was mild to moderate endomysial fibrosis and
mild adipose tissue replacement. In addition to the
nonspecific myopathic changes, the predominant finding was the presence of numerous vacuoles rimmed by
finely granular material that was basophilic on H&E
and purple-red on modified Gomori trichrome staining
(Fig 4). Most vacuoles showed acid phosphatase activity. Fiber type analysis (see Table 2) disclosed that both
type 1 and type 2 fibers were affected, although type 1
fibers tended to predominate and type 2B fibers decreased as the disease progressed. Type 2C and alkaline phosphatase-positive fibers were slightly increased in number. The vacuoles did not stain
positively with periodic acid-Schiff or oil red 0.
Electron Microscopy in D i s M D
O n electron microscopy examination a number of
fibers were found to be necrotic. Degenerated fibers
were frequently filled with fragmented myofibrils and
were invaded by numerous phagocytes. Even fibers
showing early structural changes, such as focal
myofibrillar disorganization and hypercontraction,
were surrounded by phagocytes, which occasionally invaded the sarcoplasm. Scattered throughout were regenerating fibers containing poorly organized myofibrils and increased numbers of ribosomes. Twin,
triple, or multiple satellite cells, probably resulting
from recent cell division, were increased in number
(Fig 5). Such satellite cells occasionally showed “activated” characteristics, including an increased number
of organelles, markedly proliferated caveolae forming
tubular structures, and large nuclei with distinctive indentation. An increase in the number of satellite cells
Nonaka et al: Autosomal Recessive Distal M D
55
was confirmed by statistical analysis: 16.0 to 18.6% of
the nuclei belonged to satellite cells in Patients 1
through 3 (controls, mean
SD, 4.4 t 1.8% 1361
(Table 3).
Fig 5 . Electron micrograph of Patient 2 with distal muscular
dystrophy. Multiple satellite cells probabi$ resulting from recent
cell division are present in a mildly degeneratedfiber.A phagoryte (p) is present in the endomysium. (Lanthanum nitrate
stain; x 6,900.)
*
Electron Microscopy in DMRV
The outstanding ultrastructural features in the DMRV
group were numerous myeloid (lamellar) bodies, and
vacuoles that contained cytoplasmic debris and glycogen particles (Fig 6). These inclusions were surrounded not by membranes but, rather, usually by
myofibrils with occasional focal disorganization and Z
streaming. Glycogen particles were slightly increased
in number in subsarcolemmal areas. Even in and
around fibers containing such inclusions, phagocytes
were not recognizable. Satellite cells were quiescent
and not morphologically altered. A quantitative analysis of satellite cell populations demonstrated no in-
Table 3. Quantitative Analysis of Satellite Cell Populations
~
No. of
SN
SNlMF
SNiMN -I- SN
MF
No. of
MN
(5%)
(5%)
RF
BB
RF
200
200
200
22 1
186
192
42
21
20
22
16.0
17.3
18.6
VM
TA
BB
TA
200
200
200
200
196
292
181
3
11
7
2.9
7.5
7.1
2.3
14.9
5
3.2d
4.4
*
1.8d
Examined
Muscle
No. of
Condition
Patient
No.
Distal muscular
dystrophy
1
2
3
4"
5
Distal myopathy
with rimmed vacuole
formation
6
7
8
2 16
39
44
6
22
14
5
3
23
Duchenne muscular
dystrophyb
Controls'
%
10"
"No electron microscopic specimen available.
bW&ayama and Schotland 1421.
'Schmalbruch and Hallhammer 1361. Subjects 25 to 35 years old.
"Mean ? SD.
MF = muscle fibers; MN
=
myonuclei; SN = satellite cell nuclei; RF
tibialis anterior.
56 Annals of Neurology Vol 1 7 N o 1 January 1985
=
rectus femoris; BB
=
biceps brachii; VM
=
vascus medialis: TA =
Fig 6. Electron micrograph of Patient 7 with distal myopathy
with rimmed vacuole formution. Despite the presence of numerous
autophagic vacuoles and myeloid bodies in the muscle fibers, the
satellite cell (arrow) as in the quiescent state. No phagocytes are
seen in or around the degenerativejiber. (Lanthanum nitrate
stain; X 3,600.)
crease in satellite nuclei compared with the amount in
age-matched controls (see Table 3). The morphological characteristics of DisMD, DMRV, and D M D are
summarized in Table 4.
Discussion
The inheritance and symptoms of DisMD resemble
those of DMRV. The preferential involvement of the
gastrocnemius rather than peroneal muscles and the
high CK levels in DisMD are probably the clinical
findings crucial to differential diagnosis. The muscle
abnormalities are strikingly different in the two forms
of distal myopathy: in DisMD, active fiber necrosis
followed by regeneration resembles that in D M D 13,
4,301. Although myopathic changes with muscle fiber
necrosis can be found in a number of autosomal dominant and sporadic distal myopathies, Miyoshi and colleagues 125-271 in a study of 17 patients in eight
families confirmed that DisMD is transmitted as an
autosomal recessive trait. Although none of the present 4 patients had a positive family history, the clinical
and pathological features were identical to those of
DisMD.
The most outstanding morphological features in
DMRV are myopathic change and rimmed vacuole
formation. The rimmed vacuole per se is not a finding
Table 4. Summavy of Histological Findings
Finding
Degeneration
Rimmed vacuoles
Necrosis with
phagocytosis
Opaque fibers
Regeneration
Basophilia
Alkaline phosphatasepositive fibers
Type 2C fibers on
ATPase staining
No. of satellite cells
Small fibers in groups
Fiber type involvement
Fiber type predominance
in advanced stage
DisMD
DMRV
DMD
-
+
-
+
+
+
+
ttt
ttt
1+2
+
+
+
+
?
-
5
t
--t
-
+
?
1
1
+2
ttt
ttt
+2
1
1
DisMD = distal muscular dystrophy; DMRV = distal myopathy
with rimmed vacuole formation; DMD = Duchenne’s muscular dystrophy; - = none; + = marked; ? = mild;? ? t = markedly
increased; +- ? = normal to mildly increased.
specific to this disorder, for such vacuoles can be seen
in various neuropathic and myopathic processes 19, 11,
151. Because there is no histological evidence suggesting a neuropathic or dystrophic process, vacuole formation in this state is assumed to play an important
role in inducing muscle fiber atrophy and fiber loss.
Focal myofibrillar degeneration, probably due to digestion by a certain proteolytic enzyme, is assumed to
initiate lysosomal activation of enzymes such as cathepsins, which probably induce an antophagic phenomenon [ 3 2 } . The phagocytized myofibrils and cytoplasmic
Nonaka et al: Autosomal Recessive Distal MD 57
organelles are then degraded in the lysosomes, with
subsequent formation of the myeloid bodies recognized on electron microscopy and the rimmed vacuoles noted histochemically.
The repair process taking place after muscle fiber
degeneration is also different in the two forms of myopathy. Statistical analysis of undifferentiated type 2C
fibers, which stain darkly on ATPase staining with
both alkaline and acid preincubation, showed a remarkable increase in the number of these fibers in
DisMD and only a slight increase in DMRV. Because
the regenerating fibers in dystrophic muscles behave as
do type 2C fibers on ATPase staining C9, 331, the
increased number of these fibers in DisMD indicates
active regeneration after degeneration.
The paucity of a regenerative process in DMRV and
the active regeneration in DisMD were also confirmed
by electron microscopical examination with statistical
analysis of satellite cell populations. The satellite cell is
a mononucleated cell, located between the basal lamina and plasma membrane of the muscle fiber 1231,
that plays an important role in muscle regeneration as a
source of myoblastic cells E5, 61. When cross sections
of normal muscle were examined by electron microscopy, the proportion of satellite cell nuclei in the total
number of nuclei within the basal laminae of the muscle fibers (the satellite nuclei plus myonuclei) was
found to be 4.4 t 1.8% in middle-aged adults 1361
and 8.2 k 1.8% in infants less than 3 years of age
1341. They are present at high frequency in diseased
muscles, especially in those diseases with an active regenerative process, such as DMD [42},and with histological characteristics of muscle fiber immaturity, including Werdnig-Hoffmann disease [4 11 and congenital
nonprogressive m yoparhy 1341. Therefore, a normal
incidence of satellite cells in DMRV reflects a paucity
of muscle regeneration. In contrast, the markedly increased number of satellite cells with occasional electron microscopic features of “activation” in DisMD
strongly suggests the presence of active fiber regeneration.
Because the disease in the present patients differs
from the Swedish form in the clinical and pathological
findings, we conclude that there are at least two additional distinct forms of distal myopathy, autosomal recessive DisMD and DMRV, that can be recognized in
the wide spectrum of distal myopathies.
The authors thank Dr Paul Neumann (Department of Neuropathology, Albert Einstein College of Medicine) for his suggestions and
advice.
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autosomal, myopathy, stud, formation, comparative, vacoule, muscular, distal, dystrophy, rimmer, recessive
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