Table 2 Study Characteristics

 Aldehag et al. [28]

2013

Sweden

Effects of hand-training in persons with myotonic dystrophy type 1 – a randomised controlled cross-over pilot study

RCT

35

Yes

Childhood, adult and late onset

To investigate the effects of a hand-training program on grip, pinch and wrist force, manual dexterity and activities of daily living, in adults with DM1.

Mix of supervised and unsupervised 12-week hand strength training with putty.

Improved strength in isometric wrist flexors and in perceived function. Other muscle groups showed a trend towards strength gains. No improved dexterity noted.

 Aldehag et al. [41]

2005

Sweden

Effects of a hand training programme in five patients with myotonic dystrophy type 1.

Cross over

5

Yes

Adult onset

To evaluate hand function in five patients with DM1 after a 12-week strength training program.

Mix of supervised and unsupervised 12-week hand strength training with putty.

Improved strength in individual muscle testing but not prehension. Improved dexterity. No change in myotonia.

 Conraads et al. [45]

2002

Belgium

Importance of physical rehabilitation before and after cardiac transplantation in a patient with myotonic dystrophy: a case report

Case report

1

Not specified

Not specified

Case report of the effect of rehabilitation on a patient that has undergone heart transplantation with DM1.

Complete supervised rehabilitation (over several years, with complications).

Improved respiratory function, strength, aerobic endurance and tolerated work load.

 Hammarén et al. [35]

2015

Sweden

Effects of a balance exercise programme in myotonic dystrophy type 1: A pilot study

Before after

11

Yes

Not specified

To evaluate the effects of balance exercises in adults with DM1 directly after intervention and at follow-up after 12 weeks.

10-week supervised balance training program.

Results reported for every patient individually. Most show quadriceps strength improvement others deterioration, all show ankle dorsiflexor strength deterioration. Most showed improvement in the step test. Varied results in TUG. Diminished speed in 10mwt in most patients.

 Kierkegaard et al. [29]

2011

Sweden

Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: a randomized controlled pilot study

RCT

35

Yes

Not specified

To investigate the feasibility and effects of a physical exercise programme on functioning and health-related quality of life in adults with DM1.

14-week supervised varied training program (strength, aerobic, balance, flexibility).

Their exercise program is feasible. No significant results, trends indicate an improvement in 6mwt, timed stands test and TUG times. No adverse effects noticed.

 Missaoui et al. [43]

2010

France

Posture and gait abilities in patients with myotonic dystrophy (Steinert disease). Evaluation on the short-term of a rehabilitation program

Retrospective

20

Not specified

Not specified

To evaluate the effects of a rehabilitation program in terms of balance, gait and muscle strength in a population of patients with DM1.

Complete supervised rehabilitation.

Significant improvements in strength, BBS, functional reach test and TUG.

 Sjögreen et al. [42]

2010

Sweden

The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type 1.

Cross-over

8

Not specified

Congenital and childhood onset

To investigate if regular training with an oral screen could strengthen the lip muscles in children and adolescents with DM1.

16-week home based lip strength training.

Results reported for every patient individually, some show improvements in strength and other have no significant changes. No adverse effects were noted.

 Barnes et al. [31]

1997

United Kingdom

Skeletal muscle metabolism in myotonic dystrophy A 31P magnetic resonance spectroscopy study

Before after

31

Yes

Different severities^a

Evaluate muscle bioenergetics in DM1 patients at rest and during exercise.

Aerobic and ischemic acute exercise in hands and triceps.

More rapid depletion of PCr and increased ATP utilisation indicates an increased metabolic demand to exercise. Diminished acidification post exercise in DM1 patients. Suggestion of mitochondrial and glycogenolysis defect.

 Rehunen et al. [37]

1985

Finnland

High-energy phosphate compounds in slow-twitch and fast-twitch muscle fibres. Changes during exercise in some neuromuscular diseases

Before after

5

N/A

Not specified

To ascertain whether patients with neuromuscular diseases have any differences in the level and use of the high-energy phosphates, ATP and creatine phosphate, in ST and FT muscle fibres.

Acute 30s ergocycle exercise.

Higher but non-significant depletion in PCr and ATP post exercise in DM1 vs controls. Higher but non-significant levels of PCr at rest in DM1 vs controls.

 Siciliano et al. [38]

2001

Italy

Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy

Before after

35

Yes

Not specified

To evaluate, in DM1 patients, CoQ10 blood levels and relate them to the degree of CTG expansion as well as to the amount of lactate production in exercising muscle as indicator of mitochondrial dysfunction.

Acute repeated 3 min bouts of exercise with 2 min rest until unable to complete a 3 min bout on ergocycle.

Increased lactate levels during exercise and at rest in DM1 vs controls. Anaerobic threshold took place earlier in DM1. Lactate recovery similar to controls. Inverse correlation between CoQ10 levels and exercise lactate levels suggesting mitochondrial defects in DM1.

 Taylor et al. [39]

1993

United Kingdom

Skeletal muscle bioenergetics in myotonic dystrophy

Before after

10

No

Not specified

To determine the skeletal muscle bioenergetics in DM1.

Four maximal repetitions of acute finger flexion exercises.

Abnormalities in intracellular inorganic phosphate and proton accumulation during exercise. Decreased intracellular acidification during exercise. No evidence of impaired mitochondrial or glycogenolytic function.

 Trenell et al. [44]

2006 Australia

Exercise and myotonic dystrophy: a 31P magnetic resonance spectroscopy and magnetic resonance imaging case study

Case study

1

Yes

Not specified

To determine the effect of a 12-week aerobic training program on muscle metabolites in a patient with DM1.

12-week aerobic supervised training on ergocycle.

Normalisation of metabolites post training, unchanged pH and moderate increase in muscle volume.

 Chisari et al. [32]

2013

Italy

Chronic muscle stimulation improves muscle function and reverts the abnormal surface EMG pattern in myotonic dystrophy: a pilot study

Before after

5

Yes

Not specified

To evaluate the effects of chronic electrical stimulation both on functional and electrical properties of muscle in DM1 patients.

Home-based NMES twice a day for fifteen or thirty days on the Tibialis anterior muscle.

Improved strength in some patients, improved 10mwt time in all patients, normalisation of SMEG pattern.

 Cudia et al. [33]

2016

Italy

Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I

Before after with control group

8

Yes

Not specified

Evaluate the safety and effectiveness of functional electrical stimulation lower extremity training in DM1.

Supervised NMES while cycling or standard strengthening exercise program for controls.

Improved strength and 6mwt distance in both groups with greater improvement in the functional electrical stimulation group. No adverse effects of functional electrical stimulation.

 Esposito et al. [34]

2017

Italy

Electromechanical delays during a fatiguing exercise and recovery in patients with myotonic dystrophy type 1

Before after with control group

14

Yes

Age of onset: 15 ± 18 years^a

Evaluate the changes in the different delays components during a fatiguing exercise in patients with DM1.

Rhythmic isometric contractions of quadriceps and tibialis anterior at 50% maximal strength until exhaustion.

No difference in time until exhaustion between participants with DM1 and matched controls. Delays components were longer in DM1 compared to controls, especially in distal muscles. Delays components recovery was slower in DM1 compared to controls.

 Lindeman et al. [30]

1995

Netherlands

Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial

RCT

30

No

Two congenital and 28 adult onset

To determine whether short-term muscle strength training is efficacious for improving impairments, disabilities and handicap in patients with DM1.

24-week home based strength training with weights.

No significant changes in strength, the weakest participants show no change while a trend in the other participants shows small gains. No adverse effects noted. Trend shows an increase in endurance. Some qualitative items show a significant improvement. Membrane permeability did not change.

 Lindeman et al. [2]

1999 Netherlands

Progressive resistance training in neuromuscular patients. Effects on force and surface EMG

RCT

33

No

Two congenital and 31 adult onset

To determine the effect of strength training on surface electromyography and muscle strength in patients with DM1 and other neuromuscular diseases.

24-week home based strength training with weights.

No significant changes but trends show an improvement of the quadriceps. No significant changes in SEMG. There was a significant improvement in endurance.

 Nitz et al. [36]

1999 Australia

A study of repeated lateral pinch grip in myotonic dystrophy

Before after

10

Yes

Not specified

To investigate the response of hand and forearm muscles during repeated lateral pinch grip efforts in DM1 compared to controls.

10 acute lateral pinch grip exercises.

In DM1 participants, diminished strength, slower grip rate development and release vs controls. Increased electrical activity in DM1 vs a diminution in controls. Fatigue responses similar in both groups.

 Orngreen et al. [3]

2005 Denmark

Aerobic training in patients with myotonic dystrophy type 1

Before after

12

Yes

Not specified

To determine the effect and safety of 12 weeks of aerobic training in patients with DM1.

Home based 12-week aerobic training on an ergocycle.

Improvements in VO₂ max, maximal workload and heart rate while exercising. Greater cross-sectional area of muscle fibers. No significant changes in muscle fiber type or capillary density.

 Tollbäck et al. [24]

1999

Sweden

Effects of high resistance training in patients with myotonic dystrophy.

Before after

9

Not specified

Adult onset

To evaluate effects of dynamic high-resistance training program on muscle strength, muscle area and muscle fiber histopathology in ambulatory patients with DM1.

12-week supervised quadriceps strength training program.

Strength improvements in 1 RM but no significant changes in isokinetic testing. Significant increased CNF. Trend shows increased CSA of muscle fibers and a shift to type 1 muscle fibers.

 Torres et al. [40]

1983

United States

Quantitative testing of handgrip strength, myotonia, and fatigue in myotonic dystrophy

Before after

10

N/A

Not specified

To describe strength endurance, myotonia and fatigue in DM1 vs controls.

Acute prehension exercises.

Decreased strength, increased relaxation time and increased time to fatigue in DM1 vs controls.