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com

510 J Neurol Neurosurg Psychiatry 1998;64:510–515

Apathy and hypersomnia are common features of

myotonic dystrophy
J S Rubinsztein, D C Rubinsztein, S Goodburn, A J Holland

Abstract 3' untranslated region of a protein kinase gene

Objectives—Myotonic dystrophy is a dis- on chromosome 19. Normal chromosomes
ease characterised by myotonia and mus- have 5–37 copies of the CTG repeat, whereas
cle weakness. Psychiatric disorder and myotonic dystrophy is associated with 50 to
sleep problems have also been considered 2000 repeats. The number of triplet repeats
important features of the illness. This correlates broadly with the severity of the
study investigated the extent to which physical phenotype and with earlier age of
apathy, major depression, and hypersom- onset.2 3 The cardinal features are myotonia or
nolence were present. The objective was to muscle weakness, which often occur in associ-
clarify if the apathy reported anecdotally ation with cataracts, frontal balding, and
was a feature of CNS involvement or if this specific cardiac and gastrointestinal manifesta-
was attributable to major depression, tions. Patients with the congenital and child-
hypersomnolence, or a consequence of hood onset are often severely aVected and have
chronic muscle weakness. more pronounced cognitive impairment.
Methods—These features were studied in The CNS is known to be aVected. For
36 adults with non-congenital myotonic example, Rosman and Kakulas4 commented on
dystrophy and 13 patients with Charcot- blunted, foreshortened, and flattened frontal
Marie-Tooth disease. By using patients lobes in three necropsy cases with known cog-
with Charcot-Marie-Tooth disease as a nitive impairment. The presence of eosi-
comparison group the aim was to control nophilic inclusion bodies in the dorsomedial
for the disabling eVects of having an nucleus of the thalamus5–7 and rod-like intracy-
inherited chronic neurological disease toplasmic inclusions in the large neurons of the
causing muscle weakness. Standardised caudate have also been reported.8 Neuroimag-
assessment instruments were used wher- ing studies, summarised in Avrahami et al9 have
ever possible to facilitate comparison with found small sella turcicae, overdevelopment of
other groups reported in the medical the frontal sinuses, hyperostosis of the calvar-
literature. ian bones, cerebral atrophy, hydrocephalus,
Results—There was no excess of major and progressive ventricular dilatation. A CT
depression on cross sectional analysis in study found hyperostosis and corresponding
these patients with mild myotonic dystro- microcephaly in 71% and ventriculomegaly in
phy. However, apathy was a prominent 13% of patients.9 However, using MRI, ven-
feature of myotonic dystrophy in com- triculomegaly was evident in 71%.10 Studies
Section of parison with a similarly disabled group of with MRI are conflicting with respect to the
Developmental patients with Charcot-Marie-Tooth dis- presence of white matter lesions.10–13 A PET
Psychiatry, ease (clinician rated score; Mann Whitney
Department of study using F labelled 2-fluoro-2-deoxy-D-
U test, p=0.0005). Rates of hypersomno- glucose showed that cortical glucose utilisation
Psychiatry, University
of Cambridge, Douglas lence were greater in the myotonic dystro- was reduced by 20% in myotonic dystrophy
House, Trumpington phy group, occurring in 39% of myotonic compared with controls.14 This concurs with
Road, Cambridge, dystrophy patients, but there was no single photon emission computerised tomogra-
CB2 2AH, UK correlation with apathy. phy (SPECT) findings of decreased cerebral
J S Rubinsztein Conclusion—These data suggest that apa-
A J Holland perfusion especially in the frontal and tempo-
thy and hypersomnia are independent and roparietal association cortex.13
Department of common features of myotonic dystrophy. Cognitive impairment in myotonic dystro-
Medical Genetics, Box Apathy cannot be accounted for by clinical phy is well recognised. In the more severely
158, Addenbrooke’s depression or peripheral muscle weakness aVected congenital group, Harper15 reported a
Hospital, Hills Road, and is therefore likely to reflect CNS
Cambridge, CB2 2QQ,
mean IQ of 66 (SD 16). Although studies
involvement. These features of the disease looking at the whole range (congenital, child,
UK
impair quality of life and may be treatable. and adult onset cases) have shown a lower
D C Rubinsztein
(J Neurol Neurosurg Psychiatry 1998;64:510–515)
S Goodburn mean IQ score than normal controls (reviewed
Keywords: myotonic dystrophy; apathy; major depres- by Turnpenny et al16), IQ has recently been
Correspondence to:
Dr J S Rubinsztein, Section sion; hypersomnia shown not to be impaired in people with mild
of Developmental Psychiatry, myotonic dystrophy.16 17 However, studies
Department of Psychiatry, which have examined cognitive function in
University of Cambridge,
Douglas House,
Myotonic dystrophy is the commonest form of more detail have highlighted diYculties with
Trumpington Road, adult muscular dystrophy, with a population particular tasks such as attention,18 visual
Cambridge, CB2 2AH, UK. incidence of 1:8000.1 This progressive multi- memory, visual construction, and perception13
system disease is inherited in an autosomal as well as executive function (see discussion). It
Received 30 April 1997 and
in revised form 17 July 1997 dominant manner and is associated with an is likely that virtually all myotonic dystrophy
Accepted 1 August 1997 abnormal expansion of a (CTG)n repeat in the studies performed before the mutation was
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Apathy and hypersomnia in myotonic dystrophy 511

identified in 1992 (reviewed by Wieringa1) Methods

were aVected by ascertainment bias towards The study was undertaken in the East Anglian
the more severe forms of the disease, as area served by the Regional Genetics Service.
patients with minimal symptoms and equivocal Approval was obtained for this study from the
disease status would have been excluded. It is local area ethics committee.
also unclear if some congenital cases or very
severely aVected cases were primarily responsi- SELECTION OF PATIENTS AND CONTROLS
ble for the excess of cases with low scores. Subjects were identified from the clinical genet-
There have been anecdotal reports of apathy, ics service rather than the neurological clinic so
severe moodiness and suspiciousness, and that patients with the full range of disability
excessive daytime sleepiness occurring in as- would be included. This clinical genetics
sociation with myotonic dystrophy.2 3 19 Bird et department has made a concerted eVort to
al18 and Palmer et al,20 using personality trace families with myotonic dystrophy to oVer
molecular diagnosis. Ascertainment towards
inventories, concluded there was no one
mild disease was considered preferable so that
personality type associated with myotonic
psychopathology, if present, would be less likely
dystrophy. Apathy is consistently reported in
to be directly attributable to disabling disease.
the literature.3 19 21 Caughey and Myrian- All those between 18 and 70 years of age in
thopoulos22 reported “that aVected individuals the East Anglia area who had had a DNA diag-
when just mildly incapacitated were often con- nosis of myotonic dystrophy were initially con-
tent to sit or lie idle for hours”. In a diVerent sidered for inclusion. Those with childhood
context, apathy has been defined as “a lack of onset, adult onset, or the late onset form of the
motivation not attributable to a diminished disease were included but those with congeni-
level of consciousness, cognitive impairment, or tal myotonic dystrophy (with signs of the illness
emotional distress”.23 However, apathy in myo- from birth) were not. Patients were also
tonic dystrophy has not been clearly defined excluded if other neurological illnesses known
and its relation with excessive daytime sleepi- to aVect muscle or cognitive function were
ness or depression has not been investigated. present. Permission was sought from the
The reasons for excessive daytime sleepiness in responsible clinical geneticist or genetic nurse
myotonic dystrophy are unclear. Whereas some specialist as well as from the patients’ general
have argued that this is the result of sleep practitioner before seeing the subject. A further
apnoea, recent data suggest that this symptom set of patients were excluded at the request of
is usually caused by a dysfunction of central their clinicians. Reasons for exclusion were a
sleep regulation and is not a consequence of recent termination of pregnancy, a recent fam-
disturbed nocturnal breathing.24 It is also ily death, and a third trimester pregnancy. Two
unclear whether apathy in myotonic dystrophy patients were excluded because of current
is part of a depressive syndrome. High levels of adverse social circumstances and another at the
depressive symptoms have been described11 12 request of a general practitioner (GP) because
and Brumback et al25 reported that all of their 15 of postnatal depression. Subjects with Charcot-
patients with myotonic dystrophy met DSM III Marie-Tooth disease had all been seen in the
criteria for major depression. However, many of department of clinical genetics and the diagno-
the depression scales used in these studies do sis of Charcot-Marie-Tooth disease type1 had
not allow a formal diagnosis of major depres- been made on the basis of clinical findings and
sion to be made and simply reflect a range of nerve conduction studies which were typical, or
depressive symptoms. by the presence of the characteristic chromo-
To our knowledge, systematic investigation some 17 duplication.26
of apathy in myotonic dystrophy has not been A total of 57 patients with myotonic dystro-
undertaken. The aim of this study was to phy and 19 patients with Charcot-Marie-Tooth
quantify the degree of apathy in people with disease were contacted by letter; 21 and six
respectively refused or did not reply. Thus 36
myotonic dystrophy and to see if this was
patients with myotonic dystrophy and a
related to the extent of neuromuscular involve-
comparison group of 13 cases with CMT were
ment, the presence of hypersomnolence, or to
investigated. Among the cases with myotonic
major depressive syndrome. We hypothesised dystrophy there were five sibling pairs, one
that apathy may be an independent feature of family with three siblings and three parent-
myotonic dystrophy reflecting CNS involve- child pairs. There were two sibling pairs in the
ment. To clarify this we studied those with Charcot-Marie-Tooth disease sample.
milder disease to lessen the potential eVects of Subjects were seen at home in nearly all cases
severe weakness and disability. In addition, (46 of 49). The researcher (JSR) could not be
patients with Charcot-Marie-Tooth disease blinded to the diagnosis. Testing was completed
were included as a comparison group to in about four hours with appropriate breaks.
control for muscle weakness, chronic disability
and the presence of an inherited disease. ASSESSMENT INSTRUMENTS
Charcot-Marie-Tooth disease is a disease of A structured questionnaire was administered
the peripheral nervous system which, to the to obtain the subject’s age, duration of illness,
best of our knowledge, does not aVect the maternal or paternal inheritance of disease,
CNS. In this paper we present the findings on and age of onset of the illness. The muscle
apathy, psychopathology, and sleep in those weakness or myotonia or both as first noted by
with myotonic dystrophy compared with the the patient defined the onset of the disease (as
Charcot-Marie-Tooth disease control group. in Hunter et al2). In addition, questions were
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512 Rubinsztein, Rubinsztein, Goodburn, et al

Table 1 Demographics of myotonic dystrophy (MD) and Charcot-Marie-Tooth (CMT) day tasks or activities. The questionnaire covers
groups if they were able to manage the following six
MD CMT
tasks: walk up 15 stairs, ride a bicycle, open a
jar easily, lift heavy parcels (a standard example
Sample number (n) 36 13 of four full shopping bags was given), lift them-
Mean age (y (SD)) 42.3 (12.3) 43.5 (13.6)
Age range (y) 23-68 24-69 selves out of the bath, and lift their head oV the
Male:female ratio 14:22 5:8 bed if they were lying flat on it (without turning
Mean illness duration (y (SD)) 11 (6)* 23.2 (18.3)* on the side). This was then used to group
Maternal:paternal inheritance† 12:20 7:6
Mean years of schooling (SD) 11.8 (1.3) 11.2 (1.3) patients into mild (one to two negative replies),
NART IQ scores (range) 106 (78-120) 105 (80-120) moderate (three to four negative replies), and
* Mann-Whitney U; p = 0.037.
severe (five to six negative replies). The age of
NART IQ scores of patients with MD are repeated in Rubinsztein et al.17 onset of the muscle weakness and or myotonia
† It could not be determined from the family history of four patients if their illness was inherited was obtained. This correlates broadly with tri-
from the maternal or paternal side. plet repeat size.2 33 and therefore provides an
DiVerences between age, IQ, and years of schooling were non-significant with a t test for the first
two sets of data and Mann-Whitney U test for years of schooling. indirect measure of the degree of disability.
For genetic analysis, CTG triplet repeat sizes
asked to elicit other medical conditions, were determined using Southern analysis.33
current medication, schooling, and employ- Statistical analysis was performed using the
ment record. SPSS-PC software package (SPSS Inc, Chi-
The Maudsley Hospital sleep questionnaire (J cago, Ill). Much of the data were ordinal, so
D Parkes, personal communication) was used to non-parametric statistics were used.
assess sleep patterns. This questionnaire elicits
symptoms about the main sleep disorders and Results
contains the Epworth sleepiness scale.27 Table 1 shows the demographic characteristics
The following psychopathology rating scales of the myotonic dystrophy and Charcot-Marie-
were used: Tooth disease groups. These groups had similar
(1) Apathy evaluation scale28—the clinician mean ages, male:female ratios, years of educa-
rated and self rated versions of this scale were tion, and IQ levels. Other cognitive data from the
administered. This is an 18 item questionnaire patients with myotonic dystrophy have been
in which there are four options per question on reported separately.17 In the myotonic dystrophy
a continuum. The higher the score the greater group, 22 patients had mild disability (61%),
the apathy. The validity and reliability (internal seven (19%) moderate, and seven (19%) severe.
consistency, test-retest, and interrater) of these In the Charcot-Marie-Tooth disease group five
apathy scales have been established.28 (39%) patients had mild disability, seven (54%)
(2)Fatigue questionnaire29—a 13 item moderate, and one (8%) severe. The degree of
graded and self rated questionnaire which is disability in the myotonic dystrophy and
divided into physical and mental symptoms Charcot-Marie-Tooth disease groups were not
relating to fatigue was given. significantly diVerent. CTG expansions in the
(3) The schedule for aVective disorder and myotonic dystrophy cases ranged from 0.3–4.6
schizophrenia-lifetime version (SADS-L) was kb (fig 1). The age of onset of the patients with
used.30 myotonic dystrophy was as follows: no patients
General intelligence was rated using the with age of onset under 10 years, five patients
National adult reading test.31 (14%) between the ages of 10–17, 20 patients
Muscle power was assessed using the MRC (56%) between the ages of 18–39, 10 patients
United Kingdom scale.32 There was no estab- (28%) aged 40 and above; one subject had no
lished test of functional disability available for clinical manifestations but had DNA confirma-
patients with peripheral nerve or muscle weak- tion of myotonic dystrophy.
ness and therefore a scale was devised which
assessed muscle functioning by asking about APATHY
the ability of the patients to undertake day to Significantly higher apathy scores were found in
the myotonic dystrophy group than in the
14 Charcot-Marie-Tooth disease group. Even
when the two patients with current diagnoses of
12 depression (and high apathy scores) were
excluded from these calculations, the difference
10 in apathy scores remained significant (Mann-
Whitney U test, p=0.0001—self rated and
Subjects (n)

8 p=0.0005—clinician rated, fig 2). There was a

significant correlation between clinician and
6 self rated apathy scores (Pearson correlation
coeYcient r=0.796, p=0.001) and therefore
4 further correlations were only performed using
clinician rated scores. No correlations were
2 found between apathy and duration of illness,
age, CTG repeat length, or severity of disability.
0
0–0.5 0.5–1 1–1.5 1.5–2 2–2.5 2.5–3 3–3.5 3.5–4 4–4.5 4.5–5 FATIGUE
Size of CTG expansion (kb) Mental and physical fatigue were not signifi-
Figure 1 CTG repeat sequence expansion (in kilobases (kb)) in patients with myotonic cantly diVerent in the myotonic dystrophy v
dystrophy. The total number of patients with myotonic dystrophy is 36. Charcot-Marie-Tooth disease cases (p=0.145
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Apathy and hypersomnia in myotonic dystrophy 513

25 (Mann-Whitney U tests were used in all

comparisons).

20 DEPRESSION
A current diagnosis of major depression was
found in two of 36 (5.6%) patients with
myotonic dystrophy and in none of the patients
Cases (%)

15
with Charcot-Marie-Tooth disease (diVerence
not significant, table 2). The current point
10 prevalence for major depression in cases of myo-
tonic dystrophy is similar to that in the large epi-
demiological survey of Weissman and Myers,35
5 who also used the SADS-L (÷2=0.13, p=0.72).
Fifteen of 36 (42%) patients with myotonic
dystrophy and four of 13 (31%) patients with
0
17 22 27 32 37 42 47 52 57
Charcot-Marie-Tooth disease met the research
diagnostic criteria (RDS)30 for “probable or
Apathy rating
definite lifetime history of major depression”
Figure 2 Clinician rated version of the apathy evaluation scale28 using patients with (there was no significant diVerence between
myotonic dystrophy (black bars) and patients with Charcot-Marie-Tooth disease (striped
bars). the two groups, table 2). Lifetime depression
ratings in myotonic dystrophy showed a trend
and 0.52 respectively; Mann-Whitney U test). towards being raised in the myotonic dystrophy
Apathy did not correlate with either mental or group compared with the data of Weissman
physical fatigue scores suggesting that “apathy” and Myers.35 When our data were subdivided
is a separate entity from fatigue. by sex, women with myotonic dystrophy
showed increased lifetime depression scores
HYPERSOMNIA
compared with these epidemiological data.
This trend was not found in men (table 2).
Fourteen patients with myotonic dystrophy
Depression was often temporally related to
(39%) met minimal diagnostic criteria for
divorce or separation, and less commonly
idiopathic “hypersomnolence”.34 However, in
followed diagnosis or worsening of the illness.
the presence of myotonic dystrophy, the hyper-
In four of 15 patients with myotonic dystrophy
somnolence cannot be considered truly idi-
the onset of depression predated the onset of
opathic. In addition, two patients with myot-
the myotonia or muscle weakness and in only
onic dystrophy had symptoms of sleep apnoea
four patients was there a recurrent history of
as well as being hypersomnolent. One has had
major depressive episodes. There was no
this diagnosis subsequently confirmed by sleep
apparent excess of the following psycho-
studies and is receiving treatment. The other pathologies in myotonic dystrophy: alcohol
patient refused investigation. None of the misuse (two of 36), generalised anxiety (two of
patients with Charcot-Marie-Tooth disease 36), labile personality disorder (one of 36),
had hypersomnia although five complained of intermittent depressive disorder (one of 36),
secondary insomnia (secondary to cramps in and minor depressive episode (two of 36).
their legs). The myotonic dystrophy group Some patients had more than one diagnosis
(excluding two patients with sleep apnoea and during their lifetime using RDC rules.30
two depressed patients) were compared with
the Charcot-Marie-Tooth disease group (from
Discussion
which we excluded the cases with secondary
Myotonic dystrophy is generally thought of as a
insomnia). Significantly more patients with
neurological disease with the main emphasis
myotonic dystrophy had hypersomnia (Fisher’s
placed on the characteristic progressive myo-
exact test, p=0.03). In the hypersomnolent
tonia and muscle weakness. In this study we
group there was only one pair of siblings; the
have focused on the psychopathological fea-
rest were unrelated.
tures and abnormal sleep patterns associated
Functional disability was more pronounced
with myotonic dystrophy. We think that these
in the hypersomnolent compared with the
aspects of myotonic dystrophy are important for
non-hypersomnolent cases with myotonic dys-
three main reasons. Firstly, if they are found to
trophy (Mann Whitney U test, two tailed,
be a significant part of the phenotype then this
p=0.0027). However, the presence of hyper-
knowledge will help people with myotonic dys-
somnolence in myotonic dystrophy did not
trophy and their families to understand their
correlate significantly with apathy scores, dura-
problems better. Secondly, some of these
tion of illness, age, or CTG repeat length
associated problems may be amenable to treat-
Table 2 Current and lifetime depression rates of patients with myotonic dystrophy (MD) ment and thus lead to an improved quality of
and Charcot-Marie-Tooth (CMT) disease using SADS-L life. Thirdly, if a specific psychopathology can
be shown to be the direct consequence of the
Population controls35
MD (n=36) CMT (n=13) (n=511) myotonic dystrophy mutation (as opposed to
being, for example, secondary to muscle weak-
Current depression 2 0 22
Lifetime depression (all) 15* 4 136* ness), there is the potential for investigating the
Lifetime depression (women) 12** 3 98** molecular biological basis for that psychopa-
Lifetime depression (men) 3 1 38 thology. Thus we think that it is important to
* ÷2 = 3.81; p = 0.056; ** ÷2 = 3.91; p = 0.048. investigate and quantify psychopathology in
All other comparisons of MD cases with either CMT or population controls were non-significant. genetic diseases in which it has been anecdotally
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514 Rubinsztein, Rubinsztein, Goodburn, et al

reported. Our data suggest that apathy and concludes that the hypersomnolence seen was
hypersomnolence are common and independ- not explicable purely in terms of sleep apnoea
ent features of myotonic dystrophy. alone but is due to a disturbance in central
Our study design was constrained by practi- sleep regulation. Hypersomnolence is likely to
cal considerations. Firstly, the investigator see- be an independent feature to apathy in
ing the patients was not blinded to their myotonic dystrophy, as the hypersomnolent
diagnosis. This is not an easy problem to over- patients did not have greater levels of apathy
come, as many patients with myotonic dystro- than the non-hypersomnolent group. In five of
phy have characteristic facies. However, the 13 cases, hypersomnolence seemed to predate
SADS-L30 is a structured interview, which will the onset of muscle involvement and in another
reduce interviewer bias, and apathy and hyper- five cases occurred at the same time as these
somnolence were assessed with questionnaires peripheral features, suggesting that this symp-
completed by the study patients. Secondly, 10 tom is unlikely to be secondary to general or
of the 36 patients with myotonic dystrophy respiratory muscle weakness (which tends to
were first degree relatives and psychopathology occur late in the illness). There was greater
may be familial. However, this does not alter functional disability in the hypersomnolent
our findings of the relation between having group, so hypersomnolence may follow the
myotonic dystrophy and the presence of apathy course of the illness more closely in the later
and hypersomnolence. It would only give rise phase, or may be independently associated with
to a spurious interpretation if the increased the extent of the disability.
apathy and hypersomnolence were due to the Subjects with myotonic dystrophy show
inheritance of a gene closely linked to the myo- increased apathy compared both to patients
tonic dystrophy protein kinase gene and coseg- with Charcot-Marie-Tooth disease and litera-
regating with it, or if these features were ture controls. The mean (SD) of the clinician
strongly determined by common familial envi- rated apathy score for patients with myotonic
ronmental factors. Both of these seem unlikely. dystrophy was 38.4 (10.4) and for the patients
Thirdly, although this is one of the largest with Charcot-Marie-Tooth disease 23.7 (4.4).
series of patients with myotonic dystrophy The mean scores (SD) reported previously in
examined for psychopathology, the sample size the following groups are: normal elderly
is not large enough to confidently exclude sample 26 (6.2), left hemispheric stroke 31.9
eVects where no significant correlations or (9.6), right hemispheric stroke 34.7 (7.3),
associations were detected. In addition, we Alzheimer’s disease 44.4 (11.1), and major
have specifically excluded patients with con- depression 40.5 (9.7) (one of the sets of
genital disease, who are more likely to have clinician rated scores from Marin et al.28 )
larger CTG expansions. As the points at the Our ascertainment of patients on the basis of
extremes have greater weight in correlation DNA records has ensured the inclusion of
analyses, the paucity of severe cases may have patients with milder symptomatology, who may
diminished our ability to relate psychopathol- previously have gone unnoticed. This has, in
ogy to severity of disease or CTG repeat length. part, allowed us to conclude that apathy is not
The low current prevalence rates of depres- simply a feature of the severely aVected patients
sion in patients with myotonic dystrophy (two with myotonic dystrophy. As the Charcot-
of 36) are very diVerent to those found by Marie-Tooth disease group did not have
Brumback et al.25 who found current depres- apathy, we concluded that apathy is not a gen-
sion in 100% of their patients. This may be eral secondary psychological reaction related to
accounted for in part by the milder degree of having a chronic genetic disease causing
functional disability in our patients. The diVer- muscle weakness. The very limited number of
ence in lifetime depression rates in patients patients with myotonic dystrophy showing
with myotonic dystrophy versus the epidemio- major depression when interviewed, mitigate
logical control group were only of borderline against explaining apathy simply as part of a
significance in women. This sample may not depressive syndrome.
have shown significance for men because of the The symptom of apathy is seen commonly in
fewer men seen. Other than the one patient patients with a frontal lobe syndrome and these
with postnatal depression who was excluded at patients perform poorly on executive function
the request of her clinician, there seemed to be tasks. In myotonic dystrophy there are conflict-
no bias against selection of patients with ing reports about frontal lobe tasks being
depression. aVected. Whereas some11 12 38 39 found frontal
Hypersomnia is a common and disabling lobe tasks such as the Wisconsin card sorting
symptom in myotonic dystrophy. About one test or the verbal fluency test to be aVected,
third of patients with myotonic dystrophy have others20 40 report diVerences of borderline
sleep disorders.36 In the general population significance or no deficits. This discrepancy
3.7%-4.2% describe hypersomnolence.37 may be due to the exclusion of congenital
Thirty nine per cent of our patients met crite- cases.20 This is particularly relevant as execu-
ria for “idiopathic hypersomnolence” and a tive function tests are particularly sensitive to
further 6% had both sleep apnoea and low intelligence. We have compared patients
hypersomnolence. A recent study on those with with myotonic dystrophy with normal age and
myotonic dystrophy referred to a sleep disor- IQ matched controls17 on three tests of execu-
ders clinic reported that 14 of 22 (63.6%) were tive function—namely, a verbal fluency task,
hypersomnolent but did not fulfil criteria for the modified Wisconsin card sorting test,41 and
sleep apnoea (although both diagnoses were the cognitive estimates test.42 Patients with
present in a further three patients).24 This study myotonic dystrophy were not significantly
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Apathy and hypersomnia in myotonic dystrophy 515

aVected on the first but results reached border- frequent appearance in myotonic dystrophy. Clin Neu-
ropathol 1994;13:134–8.
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dystrophy J Neurol Neurosurg Psychiatry 1987;50:435–8.
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with frontal lobe involvement. In addition, this nervous system magnetic imaging findings in myotonic
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ebrovascular disease,28 44 and Alzheimer’s rol 1993;50:917–23.
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Apathy and hypersomnia are common features

of myotonic dystrophy
J S Rubinsztein, D C Rubinsztein, S Goodburn and A J Holland

J Neurol Neurosurg Psychiatry1998 64: 510-515

doi: 10.1136/jnnp.64.4.510

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Topic Articles on similar topics can be found in the following collections

Collections Muscle disease (257)
Musculoskeletal syndromes (537)
Neuromuscular disease (1311)
Drugs: CNS (not psychiatric) (1945)
Sleep disorders (143)
Sleep disorders (neurology) (151)
Mood disorders (including depression) (221)
Peripheral nerve disease (631)

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