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Autosomal dominant myopathy with congenital joint contractures ophthalmoplegia and rimmed vacuoles.

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Autosomal Dominant Myopathy with
Congenital Joint Contractures,
Ophthalmoplegia, and Rimmed Vacuoles
-
N. Darin, MD,* M. Kyllerman, MD, PhD,* J. Wahlstrom, MD, PhD,?
T. Martinsson, PhD,? and A. Oldfors, MD, PhDS
We describe a new myopathy in a large family with 19 affected cases. Inheritance was autosomal dominant. Characteristic clinical features were congenital joint contractures, which normalized during early childhood, external ophthalmoplegia, and proximal muscle weakness. Muscle atrophy was most prominent in the pectoralis and quadriceps muscles.
The clinical course was nonprogressive in childhood, but most adult cases experienced deterioration of muscle function,
starting from 30 to 50 years of age. The major histopathological change of skeletal muscle in childhood was focal
disorganization of myofilaments. In adults with progressive muscle weakness, the muscle biopsies showed dystrophic
changes and rimmed vacuoles with cytoplasmic and intranuclear inclusions of 15- to 21-nm filaments. These findings
suggests that this new disease should be classified as a variant of hereditary inclusion body myopathy.
Darin N, Kyllerman M, Wahlstrom J, Martinsson T, Oldfors A. Autosomal dominant myopathy with congenital
joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol 1998;44:242-248
Patients and Methods
The index case was referred because of suspected congenital
myopathy. Her mother and maternal grandfather were also
affected. An extended family investigation was performed,
applying a standardized clinical examination form. A total of
39 relatives were examined, and detailed neuromuscular investigations were performed in 10. A questionnaire comprising 102 items was later filled out by each examined family
member. Obstetrical, pediatric, child health clinic, and other
relevant medical records were scrutinized. A follow-up interview and clinical examination were performed after 4 years.
Family members were classified as definitely affected if they
had symptoms and clinical signs of myopathy on examination in addition to external ophthalmoplegia. They were
considered as not affected if they had no definite symptoms
and normal muscle findings on clinical examination. Cases
that did not fulfil these criteria were considered as probably
affected.
Investigations included electrocardiography (n = 6) and
echocardiography (n = 4 ) , computed tomography (n = 2 ) ,
or magnetic resonance imaging (n = 1) of the brain and
ophthalmological examinations (n = 3). Electromyography
(EMG; n = 8), single-fiber EMG (n = 2), nerve conduction
velocities (n = 7), repetitive nerve stimulation (n = 2 ) , and
edrophonium test (n = 2 ) were also performed. Biochemical
analyses included serum creatine kinase (S-CK), serum aspartate aminotransferase, serum alanine aminotransferase, serum
lactate dehydrogenase, serum vitamin B,, and folic acid, serum electrophoresis, serum electrolytes, serum carnitine, serum selenium, serum thyroid hormones, serum acetylcholine
receptor antibodies, blood sedimentation rate, blood lactate,
urine organic acids including lactate, urine myoglobin, and
muscle carnitine.
Muscle biopsy for ultrastructural and enzyme histochemical analysis was performed in 9 patients as previously described.' Congophilia was examined by staining with Congo
red dye.8 Immunohistochemical analysis was performed in
From the Departments of *Pediatrics, tClinical Genetics, and $Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.
Address correspondence to Dr Darin, Department of Pediatrics,
Sahlgrenska University Hospital-East, S-416 85 Goteborg, Sweden.
Rimmed vacuoles in muscle fibers, first described by
Chou,' are cytoplasmic vacuoles with granular material
in their periphery.2 Together with interstitial infiltrates
of lymphocytes and cytoplasmic and/or nuclear inclusions, consisting of filaments measuring 15 to 21 nm,
they constitute the characteristic morphological features of sporadic inclusion body myositis (s-IBM).3,4
In addition to s-IBM there are hereditary myopathies
with similar histological changes but without inflammatory signs. This is a heterogeneous group of disorders, which currently are classified as familial or hereditary inclusion body myopathies ( ~ - I B M s ) . In
~ , ~this
study, we describe the clinical and histopathological expression of a new myopathy in a large Swedish family
inherited as an autosomal dominanr trait. The morphological changes in muscle suggest that this disease
should be classified as a variant of h-IBM.
Received Aug 3 , 1997, and in revised form Dec 1, 1997, and Feb
25, 1998. Accepted for publication Feb 25, 1998.
242
Copyright 0 1998 by the American Neurological Association
some of the cases, to examine the expression of dystrophin,
a- and y-sarcoglycan, merosin (NLC-DYS1, NLC-DYS2,
NLC-DYS3, NLC-SODAG, NLC-35DAG, NLC-merosin,
Novocastra Laboratories, Newcastle upon Tyne, UK), ubiquitin, and M H C class I (ubiquitin, DAKO-HLA-ABC; Dakopatts, Glostrup, Denmark), using the avidin-biotin complex (ABC) method with peroxidase and diaminobenzidine
as chromogen. Immunoreactivity of the SMI-3 1 antibody
(Lot 11; Sternberger Monoclonals, Baltimore, MD) was
studied on frozen sections. This is a an anti-neurofilament
antibody, which cross-reacts with phosphorylated tau and
stains neurofibrillary tangles in Alzheimer’s dementia and filamentous inclusions in inclusion body myositis.’ The protocol was a slight modification of the method described by
Askanas and co-workers.’ The sections were fixed in acetone
and the immunoreactive material was visualized by the ABC
method as described above.
DNA isolation, polymerase chain reaction reactions, and
analyses of data were performed essentially as described
earlier. Two-point linkage analyses were performed with
the MLINK program from the Linkage version 5.1 package. 1 1 The model used for analyses was autosomal dominant inheritance with full penetrance (1.0) and a disease
allele frequency of 0.0001. A possible candidate gene
region was analyzed by using the chromosome 9 markers
GATA 62F03 (not available, unassigned), GATA 27A11
(Human Genome Mapping locus: D9S925), GATA 7D12
(D!3S301), GATA 21F05 (D9S922), GGAA 22E01
(D9S938), GATA 64G07 (D9S934), and AFM073ybll
(D9S158). Primer pairs and linkage maps were derived from
the CHLC (Cooperative Human Linkage Consortium’*)
and from G e n e t h ~ n . ’ ~
Results
Pedigree Analysis
Subject I:2 had thin shoulders, his sister had stiff joints
and a limping gait, and their father and grandfather
had thin muscles. They were probably affected according to history. Nineteen of the family members were
regarded as definitely affected and 7 as probably affected. Inheritance was autosomal dominant with full
penetrance (Fig I).
Symptoms and Signs
All patients experienced muscle weakness without fluctuation. Other common muscle symptoms were stiffness after prolonged rest, fatigue, and lower back pain.
A summary of clinical findings of the 19 definitely affected cases are presented in Table 1. Onset was in the
newborn period with joint contractures in 14 cases.
The joint involvement included the fingers in 6, the
hips in 3, the fingers and hips in 1, and was generalized in 4 cases. Congenital hip dislocation was observed in 4 children and 2 of them developed acetabular dysplasia, and they later underwent surgery. There
were no other signs of joint malformations o n x-ray
films. Other symptoms in the newborn period were
feeding difficulties with poor sucking in 2 children.
Despite limb-girdle weakness and muscular atrophy,
generalized floppiness of infants and children was not
found. Onset of walking was delayed in 1 subject who
began to walk unassisted at 1.5 years of age. Four children had delayed early speech development and said
their first words after 1.5 years of age.
Both in children and in adults the muscle weakness
and atrophy predominantly affected the shoulder and
pelvic girdles with atrophy of pectoralis major and
quadriceps femoris muscles (Fig 2). A mild muscle involvement of the face and hands was also noticed. External ophthalmoplegia was a characteristic finding. It
ranged from slight upward gaze palsy in the small af-
Fig I . Pedigree of the family.
11’1
11.2
11-3
11:4
11.5
11:6
11:7
Darin et al: h-IBM with Congenital Joint Contractures
243
Table 1. Clinical Findings in 19 Relatives with De$nite Myopathy
IV:29
Case
Age at examination (yr)
Hisroty
Joinr conrracrures ar birth
Hip dislocarion at birth
Progressive course
Clinical examination
External ophrhalmoplegia
Pelvic girdle weaknrss
Shoulder girdle weakness
Hand weakness
Kyphosislscoliosis
Facial weakness
Muscle tendon reflexes
Hand rremor
- = Not present;
+
4
1v: 19
W:25
--
6
IV: 11
12
+
20
21
t
+
+
+
+
+
+
+/+
+I-
-
N
N
+
-
N
D
= present;
~
33
33
-
+
+
+
+
+
+
111:s
III:17
~
~
18
II1:9
III:20
IV:10
~
~
+
+
+
+
+
37
+
+
+
+
+/
+
D
~
+
+
+
+
+/-
+
+
+
+
+
+
+
+
+
+
I
D
-
+
D
+
47
II:7
II:6
I1:4
II:2
11:3
61
66
73
75
76
+
+
+
+
+
+
+
+
+
+
I
+
+
+
+
+
+
+
~-
-
-
-
+I-
+/-
-
+/+
D
I
N
N
~
~
41
+
+
+
+
III:3
I11:2
~
41
-
D
1II:lO
~
37
+
+
III:6
111:15
~
53
~-
+
+
-
-
+
+
+
NIA
NIA -
-
+
+
+
+
+
+
+
+
D = decreased; N = normal; I = increased; NIA = historian unavailable.
Fig 2. (A) Winging of scapulae, hyperlordosic,
extended knees, and thin thiKhs in a 6-year old
boy (Case IV25). (B) Severe atrophy of the
thigh muscles in a 37-year-old man (Case IrI:
15, the fnther of Case IV25).
fected children to an almost complete restriction of
motility in several of the affected adult patients. Muscle tendon reflexes, in particular the patellar and Achilles’ tendons, were weak or absent in 7 cases. Increased
muscle tendon reflexes were noticed in 5 adult cases,
but none had clonus and the plantar response was
flexor in all. Hand tremor, that was present at rest and
increased after exercise and by age, was found in 13
cases. All sensory modalities were normal. There was
no evidence of myocardial involvement. Increased cervicothoracal kyphosis was noticed in 5 and kyphoscoliosis in 2 cases. Cavus feet were found in 3 and ptosis
in 2 cases. A high arched palate was noticed in a few
cases. Subject 111:15 had pectus excavatum.
244
Annals of Neurology
Vol 44 No 2 August 1998
Course
In childhood, the condition was nonprogressive. Joint
contractures resolved during infancy and early childhood. From 30 to 50 years of age, most patients experienced deterioration with limitation of ambulation.
Three of these patients developed severe atrophy of the
thigh muscles in a few years’ time. Two of the affected
adults needed a walking stick and 1 had to use a walking
frame.
Laborato y Investigations
Biochemical investigations were normal except for
S-CK, which showed a 2- to 10-fold increase in 4 of
Table 2. Muscle Biopsy Findings in Six Definite& Affected Fami& Members
Age at examination (yr)
Light microscopy
Central nuclei
Increased interstitial connective tissue
Muscle fiber regeneration
Rimmed vacuoles
SMI-31-positive inclusions
Electron microscopy
Focal disorganization of myofilaments
Cytoplasmic inclusions of 15-21-nm filaments
Intranuclear inclusions of 15-2 1-nm filaments
-
= Not present;
+
=
IV:29
IV:25
III:17
111:15
III:3
II:7
3
6
20
38
44
50
+
+
-
+-
-
-
-
-
-
-
ND
ND
ND
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
NI
NI
+
+
+
NI
NI
NI
NI
NI
NI
present; ND = not determined; NI = not identified.
the adult cases, who were evaluated during the progressive phase of their weakness.
EMG showed myopathic changes, with short duration, polyphasia, and low amplitude to a variable degree. The changes were more pronounced in proximal
than in distal muscles in 5 of the 6 definitely affected
cases. One had only minor changes with polyphasia
(Case III:17). The insertion activity was normal in all,
and there were no signs of spontaneous denervation.
Sensory and motor nerve conduction velocities were
normal in all. In the 2 probably affected cases, electrophysiological investigations were normal in 1 (Case
III:5) and EMG showed slightly increased polyphasia
in the right deltoid muscle of 1 (Case IV:7). Investigations for myasthenia, performed in Subjects III:5 and
III:15 with single-fiber EMG and repetitive nerve stimulation, were normal.
Linkage analysis was performed for a candidate gene
region on chromosome 9, using polymorphic markers.
No indications of linkage was detected (data not
shown but available on request).
The results of the morphological analysis of the muscle biopsy specimens are summarized in Table 2.
Among the studied cases, the 3 oldest patients showed
the most pronounced pathological changes. In these
cases, there was a considerable increase of the interstitial connective tissue, and the muscle fibers showed
marked caliber variation and frequent central nuclei.
Necrotic fibers were not found, but there were signs of
regeneration. Rimmed vacuoles with SMI-31-positive
inclusions were present in these 3 cases (Fig 3a, b, and
c), but not in the younger, less affected individuals.
Rimmed vacuoles were very frequent in 1 of the patients, where they were found in clusters of muscle
fibers. Ubiquitin immunoreactivity was frequently associated with the rimmed vacuoles. Cytoplasmic inclusions consisting of filaments measuring 15 to 21 nm
were present in all 3 of these cases (see Fig 3d and f ) ,
but intranuclear filaments were found only in Subject
III:15 (see Fig 3e). Congophilic depositions were ob-
served in association with rimmed vacuoles in Subject
111:15, but were not frequent. Muscle fibers with cytochrome c oxidase deficiency were present at low frequency (range, 0.5-1%) in all 3 cases with rimmed
vacuoles and ultrastructural changes of mitochondria
with paracrystalline inclusions were also found. Two
minor lymphocyte inflammatory cell infiltrates were
seen in one biopsy of subject 111:15, but MHC-I expression was not increased in the muscle fibers. There
was no deficiency of dystrophin, sarcoglycans, or merosin. Disorganization of myofilaments in a minicore
fashion was observed both in young and adult cases.
The muscle biopsy of Subject III:5 showed tubular aggregates in many type 2 fibers, and slightly increased
variation in muscle fiber size.
Discussion
Clinical, laboratory, and morphological features indicated an early-onset myopathy with progressive course
in adulthood. Congenital myopathies are usually characterized by early hypotonus, muscle weakness, and delayed motor milestones and follow a relatively nonprogressive course. l 4 This family showed early onset, but
early hypotonus and delayed motor milestones were
not prominent findings. Most affected family members
experienced deterioration of muscle function with onset in middle adulthood. The progressive course was
supported by elevated S-CK and dystrophic changes of
muscles with signs of muscle-fiber regeneration and increased interstitial connective tissue. These changes were
more pronounced in adults compared with children.
There were some resemblances in childhood to
multi-minicore disease both clinically and morphologically.’ Autosomal dominant inheritance has been described in some families with multi-minicore disease,
but ophthalmoplegia and joint contractures were not
In addition, minicores
reported in these families.“-I8
are unspecific and similar lesions can be observed in
other conditions such as in muscular dystrophies, and
in inflammatory and endocrine myopathies.’ External
’
Darin et al: h-IBM with Congenital Joint Contractures 245
246
Annals of Neurology
Vol 44 No 2
August 1998
Fig 3. (a and b) Serial sections of muscle tissue from Case IL7. (a) Staining with hematoxylin-eosin shows several rimmed vacu-
1oles. (b) Immunohistochemical staining with the SMI-31 antibody shows several immunoreactive inclusions. (c) Muscle tissue from
Case III:l5 showing increased interstitial connective tissue and multiple fibers with rimmed vacuoles (arrows). (d) Collections of
cytoplasmic filaments in Case IL7. (e) Intranuclear filaments in Case III:l5. (f)Detail offilamentous inclusions. The jhments
appear with longitudinal periodicity (lefi) and as tubular structures (right).
ophthalmoplegia, which probably was progressive, was
P-amyloid precursor protein, ubiquitin, apolipoprotein
a characteristic finding in our family. Although cytoE, prion protein, and a,-antichymotrypsin have been
chrome c oxidase-deficient muscle fibers were present
identified in muscle fibers in s-IBM.~.’.~*
Inclusions in
in adult cases in our family, mitochondria1 myopathy
s-IBM show immunoreactivity with the SMI-31 antiwas not a characteristic finding as in autosomal domibody, which is an anti-neurofilament antibody also renant progressive external ophthalmoplegia with multiacting with hyperphosphorylated tau.35 In our family,
ple mitochondria1 DNA deletions.”
ultrastructural examination showed, in several adult
Hereditary progressive myopathies histologically
cases, the characteristic inclusions of s-IBM and
characterized by rimmed vacuoles in muscle fibers and
h-IBM. Accumulations of ubiquitin and occasional
inclusions consisting of filaments with a diameter of 15
congophilic inclusions were present in muscle fibers
to 21 nm form a heterogenous group of diseases, desand we also demonstrated immunoreactivity with the
ignated as familial or hereditary inclusion body myopSMI-31 antibody. These findings suggest that our famathies (h-IBMs). They show morphological similarities
ily may be regarded as a variant of h-IBM.
with the sporadic inclusion body myositis (s-IBM).536
Case III:5 was treated with steroids because of sarAutosomal recessive inheritance has been described
coidosis, and his daughter, Case IV7, had celiac disin a quadriceps-sparing h-IBM with onset in early
ease. Both had proximal muscle weakness and atrophy
adulthood, mainly affecting Persian Jews.20 This disorbut lacked joint contractures at birth and ophthalmoder has been linked to chromosome 9p-q1.21222We
plegia on clinical examination. Muscle biopsy of Case
performed linkage analysis to this gene locus, but no
III:5 showed tubular aggregates in type 2 fibers,
indications of linkage could be detected for any of the
whereas no morphological changes were found in Case
markers used. In a Tunisian kindred with quadricepsIV:7. It is still uncertain whether they are afflicted by
sparing h-IBM23 and also in a proximal myopathy with
the same disease as the rest of the family, and we have
autosomal recessive or X-linked recessive i n h e r i t a n ~ e , ~ ~ chosen to consider them as probably affected.
We conclude that this familial disorder may be rea symptomatic leukoencephalopathy was an additional
garded a new variant of h-IBM. This family supports
finding. Autosomal dominant inheritance with limbthe existence of different hereditary inclusion body mygirdle muscle weakness has also been described in hopathy syndromes with distinct clinical features and
IBM25-27 but the age of onset was later, and neither
congenital joint contractures, nor ophthalmoplegia
chromosomal locations. Further linkage studies and
identification of the gene and gene product, responsiwere reported in these patients. Similar histopathologble for the phenotype in this family, will be important
ical changes are also seen in late-onset distal myopafor understanding the molecular background and the
thies such as Welander’s distal myopathy2’ with autopathogenesis of h-IBM and s-IBM.
soma1 dominant inheritance, and distal myopathy with
rimmed vacuoles and autosomal recessive inheritan~e.~’
Distal myopathy with rimmed vacuoles and autosomal
This study was supported by grants from the Swedish Medical Rerecessive inheritance has recently been linked to chrosearch Council, project no. 07122, Linnea and Josef Carlssons
mosome 9 and is possibly allelic to quadriceps sparing
Foundation, Petter Silfversluolds Memorial Foundation, Goteborg
h-IBM.30 Rimmed vacuoles and tubulofilaments have
Pediatric Clinics Research Fundation, Goteborg Medical Association, King Gustav V 80 years Anniversary Fund, and the Swedish
also been described in oculopharyngeal muscular dysRheumatism Association.
trophy3’ and a childhood-onset variant has been reported that might constitute a separate entity.32
We thank Dr Alena Novak and Dr P e r - h e Grahn at the Child
Habilitation Centre of Mariedal in Vanersborg, Sweden, for support
s-IBM is a disorder with insidious onset of slowly
and assistance, and Birgitta Hallberg for technical assistance in the
progressive proximal and distal muscle weakness of late
genetic study.
adulthood and is the most common muscle disorder
presenting in patients older than 50 years of age. ExReferences
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