Assessment of a disease-specific muscular

impairment rating scale in

myotonic dystrophy
J. Mathieu, MD, MSc; H. Boivin, BSc; D. Meunier, BSc; M. Gaudreault, MD; and P. Bgin, MD, PhD

Article abstractObjective: To document the intra/interrater reliability and the construct validity of the Muscular
Impairment Rating Scale (MIRS) in assessing patients with myotonic dystrophy type 1 (DM1). The MIRS is a ordinal
five-point rating scale, established in accordance with the clinically recognized distal to proximal progression of the
muscular involvement in DM1, based partly on a manual muscle testing (MMT) of 11 muscle groups. Methods: To assess
the reliability of the MIRS, 55 patients with DM1 were examined by three different observers, one of them evaluating each
patient twice. Intra- and interobserver reliability of the MIRS was measured using Cohens weighted . To assess the
construct validity of the MIRS, correlations were made with the Functional Status Index (FSI) and eight timed functional
tasks. Results: The intraobserver reliability of the MIRS was excellent (weighted 0.84), and the interobserver
reliability was interpreted as a substantial agreement (weighted 0.77 to 0.79). The correlation coefficients between
MMT scores and MIRS grades were all highly significant (rs 0.81 to 0.88, p 0.001). The FSI showed a significant
progressive increase of the total median dependence score in activities of daily living from 0 in MIRS grade 1 to 39 in
MIRS grade 5 (p 0.001). The time needed to perform the eight functional tasks was also found to significantly increase
in relation with the progression of the MIRS grades. Conclusion: The MIRS is a quick, simple, and reliable measurement
of muscular impairment in DM1. The FSI questionnaire and the timed motor activities supported its construct validity.
The MIRS is useful to monitor major stages of DM1 progression, to study the natural history of the disease, and to identify
homogeneous groups of patients for clinical trials.
NEUROLOGY 2001;56:336 340

Myotonic dystrophy type 1 (DM1),1 an autosomal

dominant disorder, is the most common adult form of
muscular dystrophy. DM1 results from an unstable
CTG repeat expansion in the 3 untranslated region
of a myotonin kinase gene at 19q13.3.2 The clinical
picture of DM1 includes ptosis and weakness of facial, jaw, and anterior neck muscles, distal weakness
of the limbs progressing to proximal weakness, myotonia, and involvement of other systems such as cataracts or cardiac conduction defects.3
To assess the progression of muscular impairment
in DM1, we developed a ordinal five-point Muscular
Disability Rating Scale (MDRS) based on clinical
muscular evaluation without reference to the functional impact of the weakness (table 1).4 This scale is
in concordance with the well-recognized distal to
proximal progression of the muscular involvement in
DM1.3,5,6 Unfortunately, the Muscular Disability
Rating Scale is a misnomer that does not reflect the
terminology of the World Health Organization7: This
rating scale was designed to rate impairment and
not disability. Instead of MDRS, we now refer to it as
the Muscular Impairment Rating Scale or MIRS.

The main purpose of the present study was to

assess the intra/interrater reliability of the MIRS. In
the absence of any gold standards in assessing muscular impairment in patients with DM1, we also documented the construct validity of this rating
measure, using correlations with the Functional Status Index (FSI) and timed functional tasks (TFT).
Methods. Patients. Patients were recruited from the
Neuromuscular Clinic of the Complexe Hospitalier de la
Sagamie (CHS). The study protocol was approved by the
institutional review board of the CHS. From a pool of 525
individuals with noncongenital DM1, we selected a sample
of 55 patients (28 men, 27 women), aged 16 to 67 years, to
include approximately an equal number of subjects in each
of the 10-year age groups. Molecular confirmation of the
diagnosis was obtained for all patients. The DM1 phenotype, defined in 51 patients according to the age at onset of
symptoms,8 was distributed as follows: 9.8% of infantile
form, 49% of early adult form, 25.5% of the adult form, and
15.7% of mild or late form.
MIRS assessment. To categorize patients on the fivepoint MIRS, the examination included the detection of
myotonia, jaw or temporal wasting, facial weakness, pto-

From the Neuromuscular Clinic (Drs. Mathieu, Gaudreault, and Bgin, and H. Boivin and D. Meunier), Centre Rgional de Radaptation en Dficience
Physique, Jonquire; Complexe Hospitalier de la Sagamie (Drs. Mathieu, Gaudreault, and Bgin), Chicoutimi; and Research Center (Drs. Mathieu and
Bgin), Centre Hospitalier de lUniversit de Montral, Quebec, Canada.
Supported by the Fonds de la Recherche en Sant du Qubec and by Alcan Smelters and Chemicals Ltd.
Presented at the 49th annual meeting of the American Academy of Neurology; Minneapolis, MN; April 1998.
Received March 27, 2000. Accepted in final form October 10, 2000.
Address correspondence and reprint requests to Dr. J. Mathieu, Neuromuscular Clinic, Centre Rgional de Radaptation en Dficience Physique, Centre
Hospitalier Jonquire, 2230 rue de lHpital, Jonquire, Quebec, Canada G7X 7X2; e-mail: jmathieu@saglac.qc.ca
336 Copyright 2001 by AAN Enterprises, Inc.

Table 1 Muscular Impairment Rating Scale (MIRS)

Grade

Description

No muscular impairment

Minimal signs
Myotonia, jaw and temporal wasting, facial weakness,
neck flexor weakness, ptosis, nasal speech, no distal
weakness except isolated digit flexor weakness

Distal weakness
No proximal weakness except isolated elbow extensor
weakness

Mild to moderate proximal weakness

Severe (MRC scale 3/5) proximal weakness

MRC Modified Medical Research Council Scale.

sis, nasal speech, and the performance of a manual muscle

testing (MMT) of 11 muscle groups bilaterally: the neck
flexors, six proximal muscle groups (shoulder abductors,
elbow flexors, elbow extensors, hip flexors, knee extensors,
knee flexors), and four distal muscle groups (wrist extensors, digits flexors, ankle dorsiflexors, ankle plantar flexors). According to the Modified Medical Research Council
Scale (MRC),9 we defined a mild to moderate weakness as
a MRC score between 3/5 and 4/5 and a severe weakness
as a MRC score of 3/5 (3/5). At the stage of severe
weakness, the muscle moves the joint against gravity but
not through the full extent of the mechanical range of the
joint or is weaker than that.
Reliability study. To study the intra/interobserver reliability of the MIRS, patients with DM1 were scored by
three observers: a physical therapist (observer 1), a neurologist (observer 2), and a general practitioner (observer 3).
Patients were assessed during two different sessions 3
weeks apart. During the first session, they were evaluated
by a physical therapist and a neurologist, and during the
second session by the same physical therapist and a general practitioner.
Validity study. To verify the construct validity of the
MIRS, correlations between MIRS grades and the FSI and
TFT scores were assessed. Correlations between MIRS
grades and MMT scores were also recorded. As construct
validity correlations are attenuated by unreliability of
measurements, we also determined the reliability coefficients of the FSI, TFT, and MMT.
FSI. The dependency dimension of the FSI of the Pilot
Geriatric Arthritis Project10 was used to assess the functional status in activities of daily living (ADL). This measure consists of 44 ADL items grouped under three
headings: mobility (12 items), personal care (17 items), and
work (15 items). In the original FSI, three questions were
asked for each activity, yielding separate ratings for dependency, difficulty, and pain. In the present study, we
used only the dependency dimension. Pain rating was not
appropriate for patients with DM1, and difficulty rating
showed a lower degree of interobserver reliability than
dependency.11 For each of the 44 items, scores were assigned as follows: 0 independent, 1 uses mechanical
help, 2 uses human help, 3 uses both kinds of help,
4 cannot perform the activity. The questionnaires were
administered by a telephone interview. The FSI total score
(from 0 to 176) and subscores for mobility (from 0 to 48),

personal care (from 0 to 68), and work (from 0 to 60) were

recorded for each patient. To determine the test-retest reliability of the FSI in patients with DM1, two interviews
were done by the same research nurse 3 weeks apart. The
average scores of the two interviews were used to assess
the relationship with the MIRS grades .
Upper and lower extremities TFT. To assess functions
of upper and lower limb musculature, we used eight TFT
originally used in the ALS rating scale of Appel et al.12
Lower extremity tasks were to stand erect from a sitting
position in a standard chair, to arise from a supine position, to walk 20 feet with assistive devices if necessary,
and to climb and descend four standard steps, again with
assistive devices if necessary. In none of these timed activities is assistance by others allowed. For upper extremity
function, the time required to perform the following tasks
was recorded: to propel a wheelchair 20 feet, to cut a piece
of 14-inch-thick Theraplast with a plastic knife positioned
in the dominant hand at the beginning of the test, to assemble peg units (consisting of a pin, followed by a washer,
followed by a collar) on a Purdue pegboard during a period
of 60 seconds, and, using one hand at a time, to turn round
blocks, 212 inches in diameter and 34 inch high, on a board
during a period of 60 seconds.
To determine the test-retest reliability of the TFT in
patients with DM1, data were collected twice in two different sessions, 3 weeks apart, by the same research nurse.
The average of the two evaluations was used to assess the
relationship with the MIRS grades. The TFT and the FSI
assessments were done in the same sessions as MIRS
evaluations.
MMT. The MMT total score (from 0 to 220 points)
obtained for each patient and by each observer was recorded. The intra/interobserver reliability was assessed by
the same observers and in the same sessions as for the
MIRS and was calculated for the MMT total score.
Statistical analysis. Intra/interobserver reliability of
the MIRS was analyzed using Cohens with quadratic
weights as weighting scheme. The intraclass correlation
coefficient (ICC), estimated through an analysis-ofvariance model,13 was used to summarize the intra- and
interrater reliability of the MMT and the test-retest reliability of the FSI and TFT scores. The ICC contrasts intrasubject and intersubject variability and was preferred to
Cohens in analyses of continuous variables. Correlations
between MMT, FSI, and TFT scores and MIRS grades
were assessed using Spearman rank correlation coefficients with one-tailed significance. A p value of 0.05 was
considered significant. Statistical analysis were performed
using the SPSS statistical software package.14
Results. Reliability. MIRS. The intraobserver reliability of the MIRS was 0.84, and the interobserver reliability ranged as follows: observers 1 versus 2, weighted
0.77; observers 1 versus 3, weighted 0.78; and
observers 2 versus 3, weighted 0.79. The intrarater
and interrater reliability was similar for men and women.
A perfect agreement was observed between the three evaluators for 30 (54.6%) of the 55 cases. A score difference of
one grade from one evaluator was observed for 23 (41.8%)
patients. A score difference of two grades from one evaluator was observed for two (3.6%) patients.
MMT. The intrarater and interrater reliabilities of the
February (1 of 2) 2001

NEUROLOGY 56

337

Table 2 Changes in manual muscle testing (MMT) scores with Muscular Impairment Rating Scale (MIRS) grades and mean MMT score
for all patients obtained by each observer
MIRS

Observers
1 (first trial)

All patients
(n 55)
MMT

MMT

MMT

MMT

MMT

MMT

Spearman
r

p
value

175 (30.6)

220 (0.0)

217 (1.6)

17

186 (15.9)

26

155 (21.9)

134 (4.9)

0.83

0.001

1 (second trial)

176 (28.7)

219 (0.8)

214 (5.6)

17

188 (16.4)

27

157 (19.0)

144 (24.7)

0.81

0.001

163 (34.4)

220 (0.0)

211 (3.1)

13

188 (9.7)

31

145 (20.4)

111 (13.5)

0.88

0.001

155 (39.5)

220 (0.0)

216 (4.1)

12

173 (10.5)

31

133 (22.4)

87 (4.2)

0.87

0.001

Values are means (SD).

total MMT score were found to be quite high (ICC 0.93

and 0.87). However, the mean MMT scores (175 versus 163
versus 155) were all different from one observer to another
(F 33.0, p 0.001) (table 2). This variability suggested
that there may be some systematic difference among them.
FSI. Test-retest ICC for the FSI total score and subscores were found to be 0.89 for total score, 0.84 for mobility, 0.82 for work, and 0.67 for personal care.
TFT. Test-retest ICCs for the eight TFT were found to
be 0.96 for turning blocks and for climbing and descending
four standard steps, 0.91 for assembling peg units, 0.81 for
propelling a wheelchair 20 feet, 0.79 for walking 20 feet,
0.77 for cutting Theraplast, 0.71 for standing from lying
supine, and 0.67 for standing from chair.
Construct validity of the MIRS. To establish the correlations between the MIRS grades and the FSI and TFT
scores, we elected to use the MIRS grading of observer 2
who gave a median MMT score.
FSI. The questionnaire recorded a significant progressive increase of the ADL dependency from a total median
score of 0 in MIRS grade 1 to 39 in MIRS grade 5 (rs
0.50, p 0.001) (table 3). MIRS grades correlated with
mobility (rs 0.54, p 0.001) and work (rs 0.36, p
0.01) but not with personal care activities (rs 0.20,
p 0.08).
TFT. The eight timed functional activities documented
progressive limitations in accordance with the MIRS
grades (table 4). The most discriminant activities were
cutting Theraplast with dominant hand (rs 0.67, p
0.001), standing from lying supine (rs 0.61, p 0.001),
turning blocks (rs 0.51, p 0.001), climbing and descending four standard steps (rs 0.51, p 0.001), and

assembling peg units (rs 0.50, p 0.001). Significant

correlations were also recorded for propelling a wheelchair
20 feet (rs 0.44, p 0.001), walking 20 feet (rs 0.41,
p 0.002), and standing from chair (rs 0.34, p 0.012).
MMT. The correlation coefficients between MMT
scores and MIRS grades were all highly significant (rs
0.81 to 0.88, p 0.001) (table 2).

Discussion. Impairment and disability rating

scales in DM1. Few scales of disease progression
have been developed for DM1. The impairment has
been rated according to the reduction of working
ability6,15 or on the requirement of medical attention.16 In DM1, the working ability and the requirement of medical attention are complex features that
may be influenced by muscular involvement as well
as by other factors such as diurnal sleepiness, educational level, personality, and type of work. Thus, we
constructed the MIRS, an ordinal rating scale based
strictly on the clinical muscular involvement without
reference to the functional impact of the weakness.
Originally, the MIRS was conceived as a rating
scale sufficiently coarse to minimize interobserver
differences while allowing registration of significant
changes in the degree of muscular deficit. The MIRS
is concordant with the usual distal to proximal progression of the muscular involvement in DM1.3,5,6 In
the first stage of the disease (grade 1), patients are
asymptomatic, and the diagnosis of DM1 is confirmed by myotonic discharges at EMG or DNA anal-

Table 3 Correlations between subscores and total dependence scores of Functional Status Index (FSI) and Muscular Impairment Rating
Scale (MIRS) grades
MIRS grades
FSI

Spearman r

p value

0 (0)

0 (2)

1 (4)

4 (5)

13 (4)

0.54

0.001
0.01

Subscores
Mobility
Work

0 (1)

0 (4)

2 (8)

4 (13)

18 (32)

0.36

Personal care

0 (0)

0 (0)

0 (1)

0 (0)

4 (6)

0.20

0.075

Total scores

0 (1)

0 (6)

4 (11)

10 (19)

39 (38)

0.50

0.001

For grades 1, 3, and 4, data are median (interquartile range), and for grades 2 and 5, data are median (range). For grade 1, n 5; for
grades 2 and 5, n 3; for grade 3, n 13; for grade 4, n 31.
338 NEUROLOGY 56

February (1 of 2) 2001

Table 4 Median time to perform eight functional activities in relation with Muscular Impairment Rating Scale (MIRS) grades
MIRS grades
Timed functional tasks

Spearman
r

p
value

5.1 (2.5)

5.4 (3.0)

7.2 (3.9)

8.5 (5.0)

11.7 (6.0)

Cutting Theraplast, s

7.7 (2.8)

10.8 (1.3)

12.1 (4.4)

18.2 (8.4)

21.9 (2.0)

0.67

0.001

Purdue peg board, no. of pegs in 60 s

8.1 (3.4)

7.3 (1.2)

7.6 (1.8)

6.3 (2.3)

5.5 (0.7)

0.50

0.001

Blocks, no. of blocks in 60 s

93 (44.6)

84.2 (9.2)

77.2 (17.5)

72 (14.2)

49 (23.5)

0.51

0.001

Upper extremities
Propelling wheelchair 20 ft, s

0.44

0.001

Lower extremities
Standing from chair, s

0.4 (0.2)

0.4 (0.1)

0.4 (0.4)

0.5 (0.4)

1.2 (0.5)

0.34

0.012

Standing from lying supine, s

1.1 (0.7)

0.9 (0.6)

1.4 (0.6)

2.1 (2.5)

4.8 (1.5)

0.61

0.001

Walking 20 ft, s

4.4 (1.2)

5.8 (1.2)

5.7 (1.4)

6.1 (2.4)

7.6 (8.4)

0.41

0.002

Climbing and descending 4 steps, s

3.7 (2.3)

4.9 (1.9)

4.9 (1.8)

7.2 (5.3)

8.0 (*)

0.51

0.001

* Two missing values (patients unable to perform the tasks).

For grades 1, 3, and 4, data are median (interquartile range), and for grades 2 and 5, data are median (range). For grade 1, n 5; for
grades 2 and 5, n 3; for grade 3, n 13; for grade 4, n 31.

ysis, without any significant weakness on muscle

examination. Clinical myotonia, facial weakness,
temporal atrophy, ptosis, nasal speech, and weakness of neck flexors are early muscular features of
DM1, and patients displaying these features without
limb weakness are grouped in grade 2. As the disease progresses (grade 3), distal muscles of upper
and lower limbs are involved, particularly the extensors and flexors of the digits and of the wrist and the
dorsiflexors of the foot. A proximal weakness occurs
in the upper limbs (shoulder abductors, elbow flexors
and extensors) and/or in the lower limbs (hip flexors,
knee extensors) along with a more severe distal
weakness in patients classified in grade 4. Finally,
patients included in grade 5 present a severe (MRC
scale less than or equal to 3/5) proximal weakness,
especially of hip flexors and knee extensors. Occasionally, a severe proximal weakness appears in the
upper limbs (shoulder abductors, elbow flexors) before the lower limbs. Most patients with an MIRS of
grade 5 need a wheelchair for short or long displacements and have considerable difficulty in carrying
out daily living activities.
Based on our clinical experience with patients
with DM1, two exceptions to the rule are included in
the MIRS grading. First, weakness of the digit flexors occurs very early in the course of the disease,
often without any other significant distal weakness;
this feature remains included in grade 2. Similarly,
weakness of the elbow extensors frequently occurs
without other proximal weakness; therefore, patients
presenting this isolated proximal weakness remain
in grade 3.
Reliability of the MIRS. Values of reliability coefficients have been characterized as follows: slight,
(0 to 0.20), fair (0.21 to 0.40), moderate (0.41 to 0.60),
substantial (0.61 to 0.80), and excellent (0.81 to
1.00).17 The present study documented that the
MIRS is a reliable instrument with excellent in-

trarater reliability. However, the interrater reliabilities, interpreted as substantial agreement, suggested
that the MIRS should be used in large population
studies, tolerating lower standards of reliability,
rather than in the clinical assessment of individual
patients.
Validity of the MIRS. Validity is the degree to
which a scale actually assesses what it is intended to
measure. The MIRS scores must reflect progressive
muscular impairment in patients with DM1 to be
useful in screening functional disability and in monitoring changes in muscle weakness. In DM1, there
are no instruments or scales with established validity (gold standards) for the assessment of the muscular impairment or for the assessment of functional
disability. In this context, construct validation with
correlational evidence must be used to examine the
validity of a new scoring method.18 In the current
study, correlations were determined between grades
derived from the MIRS and three other measures:
the MMT for the assessment of the muscular weakness and the FSI and the TFT for the assessment of
the functional disability. Most correlation coefficients between the MIRS and these other measurements may be interpreted as quite high, confirming
the convergent validity between these scales. The
ADL dependency questionnaire and timed motor activities confirmed the construct validity of the MIRS,
illustrated by the progressive modifications of functional scores in accordance with the MIRS grades.
High correlation coefficients between MMT total
score and the MIRS (rs 0.81 to 0.88) were to be
expected because the MIRS rating system is based
partly on muscular weakness as measured by the
MMT. These latter correlations may then reflect the
notions of equivalent forms and of internal consistency of an instrument as well as a convergent
validation.
Even if MMT and MIRS strongly correlate and
February (1 of 2) 2001

NEUROLOGY 56

339

both appear to accurately rate the muscular impairment, MIRS presents several advantages over MMT.
The MIRS is more representative of the different
stages of the muscular impairment than the MMT
scores. Indeed, the MIRS gradation reflects the usual
distal to proximal muscular impairment of DM1, and
this clinical progression may be overlooked by the
MMT scores. Moreover, MMT scores would not discriminate very mildly affected patients who present
any or minor muscular impairment on the MMT as
those classified in grades 1 and 2. Facial weakness,
temporal atrophy, ptosis, and nasal speech are clinical signs that may be observed alone or in combination in grade 2, and these features are not easily
assessed by manual testing. With the more frequent
detection of asymptomatic patients by DNA analysis,
it is important to use a classification allowing accurate identification of these mildly affected patients.
The MIRS is a simple scale to use, easy to learn,
and needs only 10 to 15 minutes to execute. This
scale is now used routinely in some research settings, and its acceptability is expanding. The correlational validity of the MIRS has also been illustrated
by other studies. The usefulness of the MIRS to assess the disease severity was demonstrated in a DM1
genotype-phenotype correlation study,19 and a significant correlation was found between the MIRS and
the size of the trinucleotide repeat.20 A significant
correlation between mortality rates and MIRS
grades was reported,21 and this rating scale was
found to be useful to identify patients with DM1 who
are at risk of chronic respiratory failure.22 The MIRS
was also used to characterize the clinical stage of the
disease in a relationship study with the muscle surface mechanical and electrical activities, and the authors observed a good concurrence of clinical findings
and their experimental results.23
We previously reported that a distal weakness
(grade 3) is identified in patients with DM1 after 9 to
10 years duration of the illness, a proximal weakness (grade 4) is noticed after a progression of 18
years, and patients presented a severe proximal
weakness (grade 5) after a course of 27 years.4
Therefore, the MIRS lacks sensitivity to detect subtle changes in muscular impairment and is not appropriate for efficacy measurements in short-term
therapeutic trials. The MIRS is useful to monitor
major stages of DM1 progression, to study the natural history of this disease, and to document correlations with the impairments of other systems. For
clinical trials, the MIRS may be used to select a
sample with a homogeneous muscular involvement.

340 NEUROLOGY 56

February (1 of 2) 2001

References
1. International Myotonic Dystrophy Consortium (IDMC). New
nomenclature for myotonic dystrophies and DNA testing
guidelines for myotonic dystrophy type 1. Neurology 2000;54:
1218 1221.
2. Harley HG, Brook JD, Rundle SA, et al. Expansion of an
unstable DNA region and phenotypic variation in myotonic
dystrophy. Nature 1992;355:545546.
3. Harper PS. Myotonic dystrophy. 2nd ed. London: Saunders,
1989.
4. Mathieu J, DeBraekeleer M, Prvost C, Boily C. Myotonic
dystrophy: clinical assessment of muscular disability in an
isolated population with presumed homogenous mutation.
Neurology 1992;42:203208.
5. Caughey JE, Myrianthopoulos NC. Dystrophia myotonica and
related disorders. Springfield: Thomas, 1963.
6. Thomasen E. Myotonia. Denmark: Aarhuus Stifsbogtrykkerie,
1948.
7. World Health Organization. International classification of impairments, disabilities and handicaps. Geneva: WHO, 1980.
8. Koch MC, Grimm T, Harley HG, Harper PS. Genetic risk for
children of women with myotonic dystrophy. Am J Hum Genet
1991;48:1084 1091.
9. Mendell JR, Florence J. Manual muscle testing. Muscle Nerve
1990;13(suppl):S16 S20.
10. Deniston OL, Jette A. A functional status assessment instrument: validation in an elderly population. Health Serv Res
1980;15:2134.
11. Jette AM, Deniston OL. Inter-observer reliability of a functional status assessment instrument. J Chronic Dis 1978;31:
573580.
12. Appel V, Stewart SS, Smith G, Appel SH. A rating scale for
lateral amyotrophic sclerosis: description and preliminary experience. Ann Neurol 1987;22:328 333.
13. Bravo G, Potvin L. Estimating the reliability of continuous
measures with Cronbachs Alpha or the intraclass correlation
coefficient: toward the integration of two traditions. J Clin
Epidemiol 1991;44:381390.
14. SPSS Advanced and Professional Statistics 6.1. Chicago:
SPSS, 1994.
15. Gillam PMS, Heaf PJD, Kaufman L, Lucas BGB. Respiration
in dystrophia myotonica. Thorax 1964;19:112120.
16. Harper PS. Congenital myotonic dystrophy in Britain. 2. Genetic basis. Arch Dis Child 1975;50:514 521.
17. Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics 1977;33:159 174.
18. McDowell I, Newell C. Measuring health. A guide to rating
scales and questionnaires. New York: Oxford University
Press, 1996.
19. Gennarelli M, Novelli G, Andreasi Bassi F, et al. Prediction of
myotonic dystrophy clinical severity based on the number of
intragenic (CTG)n trinucleotide repeats. Am J Med Genet
1996;65:342347.
20. Gharehbaghi-Schnell EB, Finsterer J, Korschineck I, Mamoli
B, Binder BR. Genotype-phenotype correlation in myotonic
dystrophy. Clin Genet 1998;53:20 26.
21. Mathieu J, Allard P, Potvin L, Prvost C, Bgin P. A ten-year
study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999;52:1658 1662.
22. Bgin P, Mathieu J, Almirall J, Grassino A. Relationship between chronic hypercapnia and inspiratory muscle weakness
in myotonic dystrophy. Am J Respir Crit Care Med 1997;156:
133139.
23. Orizio C, Esposito F, Sansone V, Parrinello G, Meola G, Veicsteinas A. Muscle surface mechanical and electrical activities
in myotonic dystrophy. Electromyogr Clin Neurophysiol 1997;
37:231239.